المؤلفون: Andreakos, E, Abel, L, Vinh, DC, Kaja, E, Drolet, BA, Zhang, Q, O'Farrelly, C, Novelli, G, Rodriguez-Gallego, C, Haerynck, F, Prando, C, Pujol, A, Su, HC, Casanova, JL, Spaan, AN, Bastard, P, Biggs, CM, Bigio, B, Boisson, B, Bolze, A, Bondarenko, A, Brodin, P, Chakravorty, S, Christodoulou, J, Cobat, A, Condino-Neto, A, Constantinescu, SN, Feldman, HB, Fellay, J, Halwani, R, Jouanguy, E, Lau, YL, Meyts, I, Mogensen, TH, Okada, S, Okamoto, K, Ozcelik, T, Pan-Hammarstrom, Q, Planas, AM, Puel, A, Quintana-Murci, L, Renia, L, Resnick, I, Sediva, A, Shcherbina, A, Slaby, O, Tancevski, I, Turvey, SE, Uddin, KMF, van de Beek, D, Zatz, M, Zawadzki, P, Zhang, SY

المصدر: Nature immunology. 23(2):159-164

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:147956541

المؤلفون: Litcher-Kelly L; Adelphi Values, Boston, MA, USA., Ozen A; Marmara University, Istanbul, Türkiye., Ollis S; Adelphi Values, Boston, MA, USA., Feldman HB; Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Yaworsky A; Adelphi Values, Boston, MA, USA., Medrano P; Adelphi Values, Boston, MA, USA., Chongsrisawa V; Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Patumwan, Bangkok, Thailand., Brackin T; Regeneron Pharmaceuticals, Inc., 777 Old Saw Mill River Road, Tarrytown, NY, 10591, USA., Perlee L; Regeneron Pharmaceuticals, Inc., 777 Old Saw Mill River Road, Tarrytown, NY, 10591, USA., Walker M; Adelphi Values, Boston, MA, USA., Pradeep S; Adelphi Values, Boston, MA, USA., Lenardo MJ; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, Laboratory of Clinical Immunology and Microbiology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Harari OA; Regeneron Pharmaceuticals, Inc., 777 Old Saw Mill River Road, Tarrytown, NY, 10591, USA., Jalbert JJ; Regeneron Pharmaceuticals, Inc., 777 Old Saw Mill River Road, Tarrytown, NY, 10591, USA. jessica.jalbert@regeneron.com.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 08; Vol. 19 (1), pp. 290. Date of Electronic Publication: 2024 Aug 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Antibodies, Monoclonal, Humanized*/therapeutic use, Humans ; Female ; Male ; Adolescent ; Child, Preschool ; Child ; Young Adult ; Adult ; Outcome Assessment, Health Care

المؤلفون: Fokra A; Department of Physiology and Biophysics Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Feldman HB; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Kinaneh S; Department of Physiology and Biophysics Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Abassi Z; Department of Physiology and Biophysics Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Laboratory Medicine, Rambam Health Care Campus, Haifa, Israel., Hershkovitz T; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel. Electronic address: Tovah@gmc.gov.il.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jul 09; Vol. 143 (1-2), pp. 108534. Date of Electronic Publication: 2024 Jul 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

المؤلفون: Margalit S; Department of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.; Department of Biomedical Engineering, Tel Aviv University, 6997801 Tel Aviv, Israel., Tulpová Z; Department of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.; Department of Biomedical Engineering, Tel Aviv University, 6997801 Tel Aviv, Israel.; Institute of Experimental Botany of the Czech Academy of Sciences, Olomouc, Czech Republic., Detinis Zur T; Department of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.; Department of Biomedical Engineering, Tel Aviv University, 6997801 Tel Aviv, Israel., Michaeli Y; Department of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.; Department of Biomedical Engineering, Tel Aviv University, 6997801 Tel Aviv, Israel., Deek J; Department of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.; Department of Biomedical Engineering, Tel Aviv University, 6997801 Tel Aviv, Israel., Nifker G; Department of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.; Department of Biomedical Engineering, Tel Aviv University, 6997801 Tel Aviv, Israel., Haldar R; Department of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.; Department of Biomedical Engineering, Tel Aviv University, 6997801 Tel Aviv, Israel., Gnatek Y; Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Ramat Gan, Israel., Omer D; Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Ramat Gan, Israel., Dekel B; Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Ramat Gan, Israel.; Pediatric Nephrology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Ramat Gan, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel., Feldman HB; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Grunwald A; Department of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.; Department of Biomedical Engineering, Tel Aviv University, 6997801 Tel Aviv, Israel., Ebenstein Y; Department of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.; Department of Biomedical Engineering, Tel Aviv University, 6997801 Tel Aviv, Israel.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jun 13. Date of Electronic Publication: 2024 Jun 13.

نوع المنشور: Journal Article; Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Bach MY; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Endocrinology Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Miron SR; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Feldman HB; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63550. Date of Electronic Publication: 2024 Jan 31.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: RNA Splicing Factors*/genetics , Klippel-Feil Syndrome*/genetics , Klippel-Feil Syndrome*/diagnosis , Klippel-Feil Syndrome*/physiopathology , Klippel-Feil Syndrome*/pathology, Humans ; Female ; Child ; Diagnosis, Differential ; Phenotype ; Cognition ; Repressor Proteins/genetics ; Loss of Function Mutation/genetics ; Intellectual Disability/genetics ; Intellectual Disability/diagnosis ; Intellectual Disability/pathology

المؤلفون: Herbst C; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Axer-Schaefer S; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany., Audebert-Bellanger S; Department of Genetics, CHU Brest, 29000, Brest, France., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Cogne B; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France., Feldman HB; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Horn AHC; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Erlangen National High Performance Computing Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Kelly MA; HudsonAlpha Clinical Services Lab, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital University of Arizona College of Medicine, Phoenix, USA., Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Laquerriere A; Department of Anatomy, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., Li M; Invitae Corp, San Francisco, CA, USA., Mark PR; Division of Medical Genetics, Helen DeVos Children's Hospital, Corewell Health, Grand Rapids, MI, USA., Morawski M; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany., Nizon M; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France., Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA., Polster T; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., SeSong J; Genomic Medicine Institute, Seoul National University, Seoul, Republic of Korea., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Stieler JT; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany., Thifffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA., van Eyk CL; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Marcorelles P; Department of Anatomy, CHU Brest, 29000, Brest, France., Vezain-Mouchard M; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany. henry.oppermann@medizin.uni-leipzig.de.

المصدر: Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 455-469. Date of Electronic Publication: 2024 Mar 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly*/genetics , GTPase-Activating Proteins*/genetics , Heterozygote* , Neurodevelopmental Disorders*/genetics , Mutation, Missense*, Humans ; Female ; Male ; Child, Preschool ; Child ; Loss of Function Mutation ; Animals ; Developmental Disabilities/genetics ; Mice ; Infant ; Phenotype ; Adolescent

المؤلفون: Ozen A; Department of Pediatrics, Division of Allergy and Immunology, Marmara University, School of Medicine, Istanbul, Türkiye; The Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye., Chongsrisawat V; Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Patumwan, Bangkok, Thailand; King Chulalongkorn Memorial Hospital, Thai Red Cross Society Patumwan, Bangkok, Thailand., Sefer AP; Department of Pediatrics, Division of Allergy and Immunology, Marmara University, School of Medicine, Istanbul, Türkiye; The Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye., Kolukisa B; Department of Pediatrics, Division of Allergy and Immunology, Marmara University, School of Medicine, Istanbul, Türkiye; The Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye., Jalbert JJ; Regeneron Pharmaceuticals, Sleepy Hollow, NY, USA., Meagher KA; Regeneron Pharmaceuticals, Tarrytown, NY, USA., Brackin T; Regeneron Pharmaceuticals, Tarrytown, NY, USA., Feldman HB; The Genetics Institute, Tel Aviv Sourasky Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Baris S; Department of Pediatrics, Division of Allergy and Immunology, Marmara University, School of Medicine, Istanbul, Türkiye; The Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye., Karakoc-Aydiner E; Department of Pediatrics, Division of Allergy and Immunology, Marmara University, School of Medicine, Istanbul, Türkiye; The Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye., Ergelen R; Department of Radiology, Marmara University, School of Medicine, Istanbul, Türkiye., Fuss IJ; Mucosal Immunity Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Moorman H; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, Laboratory of Clinical Immunology and Microbiology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Suratannon N; Center of Excellence for Allergy and Clinical Immunology, Division of Allergy, Immunology and Rheumatology, Chulalongkorn University, Patumwan, Bangkok, Thailand; King Chulalongkorn Memorial Hospital, Thai Red Cross Society Patumwan, Bangkok, Thailand., Suphapeetiporn K; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Chulalongkorn University, Patumwan, Bangkok, Thailand; Excellence Center for Genomics and Precision Medicine, Thai Red Cross Society Patumwan, Bangkok, Thailand., Perlee L; Regeneron Pharmaceuticals, Tarrytown, NY, USA., Harari OA; Regeneron Pharmaceuticals, Tarrytown, NY, USA. Electronic address: olivier.harari@regeneron.com., Yancopoulos GD; Regeneron Pharmaceuticals, Tarrytown, NY, USA., Lenardo MJ; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, Laboratory of Clinical Immunology and Microbiology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

مؤلفون مشاركون: Pozelimab CHAPLE Working Group

المصدر: Lancet (London, England) [Lancet] 2024 Feb 17; Vol. 403 (10427), pp. 645-656. Date of Electronic Publication: 2024 Jan 23.

نوع المنشور: Clinical Trial, Phase I; Clinical Trial, Phase II; Journal Article; Multicenter Study

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-547X (Electronic) Linking ISSN: 01406736 NLM ISO Abbreviation: Lancet Subsets: MEDLINE

مواضيع طبية MeSH: Protein-Losing Enteropathies*/drug therapy , Thrombosis*, Child ; Humans ; Antibodies, Monoclonal ; Edema ; Serum Albumin ; Treatment Outcome ; Historically Controlled Study ; Male ; Female

المؤلفون: Hershkop E; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Department of Internal Medicine, Maimonides Medical Center, Brooklyn, NY, USA., Bergman I; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel., Dally N; The Hematology Unit, Ziv Medical Center, Safed, Israel.; The Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel., Feldman HB; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

المصدر: Rambam Maimonides medical journal [Rambam Maimonides Med J] 2021 Jul 20; Vol. 12 (3). Date of Electronic Publication: 2021 Jul 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Rambam Heath Care Campus] Country of Publication: Israel NLM ID: 101538065 Publication Model: Electronic Cited Medium: Print ISSN: 2076-9172 (Print) Linking ISSN: 20769172 NLM ISO Abbreviation: Rambam Maimonides Med J Subsets: PubMed not MEDLINE

المؤلفون: Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. lid2@email.chop.edu songy2@email.chop.edu., Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gong NN; Department of Psychiatry, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Kurolap A; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Feldman HB; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Boy N; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Brugger M; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Human Genetics, University Hospital LMU Munich, Goethestr. 29, Munich, Germany., Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA., McWalter K; GeneDx, Gaithersburg, MD, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Hurst J; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, New York, NY, USA., Mathew M; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Dava-Wala A; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Siemon A; Department of Pediatrics and Clinical Genetics, Nationwide Children's Hospital, Columbus, OH, USA., Bartholomew D; Department of Pediatrics and Clinical Genetics, Nationwide Children's Hospital, Columbus, OH, USA., Huang Y; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Lee H; Department of Pathology and Laboratory Medicine; Department of Human Genetics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Martinez-Agosto JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Schwaibold EMC; Department of Pathology and Laboratory Medicine; Department of Human Genetics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Brunet T; Institute of Human Genetics, Technical University Munich, Munich, Germany., Choukair D; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University Hospital Heidelberg, Heidelberg, Germany., Pais LS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Christodoulou J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Brown D; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA., Grebe T; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.; College of Medicine, University of Arizona, Phoenix, 475 N. 5th Street, Phoenix, AZ, USA., Tiosano D; Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Healthcare Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel., Kayser MS; Department of Psychiatry, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles, and University of Southern California, Los Angeles, CA, USA., Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. lid2@email.chop.edu songy2@email.chop.edu.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

المصدر: Science advances [Sci Adv] 2021 May 12; Vol. 7 (20). Date of Electronic Publication: 2021 May 12 (Print Publication: 2021).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Dinstein I; Department of Psychology, Ben Gurion University of the Negev, Beer Sheva, Israel. dinshi@bgu.ac.il.; Department of Brain & Cognitive Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel. dinshi@bgu.ac.il.; National Autism Research Center of Israel, Ben Gurion University of the Negev, Beer Sheva, Israel. dinshi@bgu.ac.il., Arazi A; Department of Brain & Cognitive Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.; National Autism Research Center of Israel, Ben Gurion University of the Negev, Beer Sheva, Israel., Golan HM; National Autism Research Center of Israel, Ben Gurion University of the Negev, Beer Sheva, Israel.; Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel., Koller J; Seymour Fox School of Education, The Hebrew University of Jerusalem, Jerusalem, Israel., Elliott E; Molecular and Behavioral Neurosciences Lab, Faculty of Medicine, Bar-Ilan University, Safed, Israel., Gozes I; The Elton Laboratory for Molecular Neuroendocrinology, Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, The Adams Super Center for Brain Studies and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel. igozes@tauex.tau.ac.il., Shulman C; The Paul Baerwald School of Social Work and Social Welfare, The Hebrew University of Jerusalem, Jerusalem, Israel., Shifman S; Department of Genetics, The Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem, Israel., Raz R; Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Davidovitch N; Department of Health Systems Management, School of Public Health, Ben Gurion University of the Negev, Beer Sheva, Israel., Gev T; Department of Psychology, Bar-Ilan University, Ramat Gan, Israel.; Autism Treatment and Research Center - The Association for Children at Risk, Givat Shmuel, Israel., Aran A; Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel.; The Hebrew University of Jerusalem, Jerusalem, Israel., Stolar O; The ALUT Autism Center, Shamir (Assaf Harofeh) Medical Center, Be'er Ya'akov, Israel., Ben-Itzchak E; Bruckner Center for Research in Autism, Department of Communication Disorders, Ariel University, Ariel, Israel., Snir IM; Autism Treatment and Research Center - The Association for Children at Risk, Givat Shmuel, Israel., Israel-Yaacov S; Department of Psychology, Bar-Ilan University, Ramat Gan, Israel.; Autism Treatment and Research Center - The Association for Children at Risk, Givat Shmuel, Israel., Bauminger-Zviely N; School of Education, Bar-Ilan University, Ramat Gan, Israel., Bonneh YS; School of Optometry and Vision Science, Faculty of Life Science, Bar-Ilan University, Ramat Gan, Israel., Gal E; Department of Occupational Therapy, Faculty of Social Welfare and Health Sciences, University of Haifa, Haifa, Israel., Shamay-Tsoory S; Department of Psychology, University of Haifa, Haifa, Israel., Zait AZ; School of Education, Tel Aviv University, Tel Aviv, Israel.; School of Population and Public Health, University of British Columbia, Vancouver, Canada., Hadad BS; Department of Special Education, University of Haifa, Haifa, Israel.; Edmond J. Safra Brain Research Center, University of Haifa, Haifa, Israel., Gross R; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Division of Psychiatry, Sheba Medical Center, Tel Hashomer, Israel., Faroy M; National Autism Research Center of Israel, Ben Gurion University of the Negev, Beer Sheva, Israel.; Pre-School Psychiatry Unit, Soroka University Medical Center, Beer Sheva, Israel., Bachmat E; Department of Computer Science, Ben Gurion University of the Negev, Beer Sheva, Israel., Eran A; Department of Life Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel., Uzefovsky F; Department of Psychology, Ben Gurion University of the Negev, Beer Sheva, Israel., Flusser H; National Autism Research Center of Israel, Ben Gurion University of the Negev, Beer Sheva, Israel.; Zusman Child Development Center, Soroka University Medical Center, Beer Sheva, Israel., Michaelovski A; National Autism Research Center of Israel, Ben Gurion University of the Negev, Beer Sheva, Israel.; Zusman Child Development Center, Soroka University Medical Center, Beer Sheva, Israel., Levine SZ; Department of Community Mental Health, University of Haifa, Haifa, Israel., Kodesh A; Department of Community Mental Health, University of Haifa, Haifa, Israel.; Meuhedet Health Services, Tel Aviv, Israel., Gothelf D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel., Marom D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Feldman HB; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Yosef DB; IVF Lab and Wolfe PGD Stem Cell Lab, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Department of Cell and Developmental Biology, Tel Aviv University, Tel Aviv, Israel., Bloch AM; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Pediatric Neurology and Developmental Unit, Loewenstein Rehabilitation Medical Center, Ra'anana, Israel., Sadaka Y; Neuro-Developmental Research Centre, Beer Sheva Mental Health Centre, Ministry of Health, Beer Sheva, Israel., Schtaierman C; Child Development Center, Maccabi Health Services, Beer Sheva, Israel., Davidovitch M; Child Development, Medical Division, Maccabi Healthcare Services, Tel Aviv, Israel., Begin M; Child Development Center, Leumit Healthcare Services, Jerusalem, Israel., Gabis LV; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.; Child Development Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Zachor D; The ALUT Autism Center, Shamir (Assaf Harofeh) Medical Center, Be'er Ya'akov, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Menashe I; National Autism Research Center of Israel, Ben Gurion University of the Negev, Beer Sheva, Israel.; Department of Public Health, Ben Gurion University of the Negev, Beer Sheva, Israel., Golan O; Department of Psychology, Bar-Ilan University, Ramat Gan, Israel.; Autism Treatment and Research Center - The Association for Children at Risk, Givat Shmuel, Israel.; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK., Meiri G; National Autism Research Center of Israel, Ben Gurion University of the Negev, Beer Sheva, Israel.; Pre-School Psychiatry Unit, Soroka University Medical Center, Beer Sheva, Israel.

المصدر: Journal of molecular neuroscience : MN [J Mol Neurosci] 2020 Sep; Vol. 70 (9), pp. 1303-1312.

نوع المنشور: Evaluation Study; Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Print Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Surveys and Questionnaires*, Autism Spectrum Disorder/*diagnosis , Databases, Factual/*standards, Adult ; Autism Spectrum Disorder/epidemiology ; Autism Spectrum Disorder/therapy ; Biomarkers ; Child ; Health Knowledge, Attitudes, Practice ; Humans ; Israel ; Outcome Assessment, Health Care ; Pediatricians/psychology ; Risk Factors ; Treatment Outcome