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1دورية أكاديمية
المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM
المصدر: Genome biology. 15(3):R53
مصطلحات موضوعية: Medicin och hälsovetenskap
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2
المؤلفون: Vezyroglou, A, Akilapa, R, Barwick, K, Koene, S, Brownstein, CA, Holder-Espinasse, M, Fry, AE, Nemeth, AH, Tofaris, GK, Hay, E, Hughes, I, Mansour, S, Mordekar, SR, Splitt, M, Turnpenny, PD, Demetriou, D, Koopmann, TT, Ruivenkamp, CAL, Agrawal, PB, Carr, L, Clowes, V, Ghali, N, Holder, SE, Radley, J, Male, A, Sisodiya, SM, Kurian, MA, Cross, JH, Balasubramanian, M
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::996ef6e7e37fd1fd72b27e880a1c15b0
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3دورية أكاديمية
المؤلفون: Li, Jianqiao, Hojlo, Margaret A, Chennuri, Sampath, Gujral, Nitin, Paterson, Heather L, Shefchek, Kent A, Genetti, Casie A, Cohn, Emily L, Sewalk, Kara C, Garvey, Emily A, Buttermore, Elizabeth D, Anderson, Nickesha C, Beggs, Alan H, Agrawal, Pankaj B, Brownstein, John S, Haendel, Melissa A, Holm, Ingrid A, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A
المصدر: Journal of Medical Internet Research, Vol 23, Iss 3, p e21023 (2021)
مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Wicks, Paul, Massagli, Michael, Frost, Jeana, Brownstein, Catherine, Okun, Sally, Vaughan, Timothy, Bradley, Richard, Heywood, James
المصدر: Journal of Medical Internet Research, Vol 12, Iss 2, p e19 (2010)
مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Dias C; Division of Developmental Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA. Electronic address: caroline.dias@childrenscolorado.org., Mo A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Cai C; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA., Sun L; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA., Cabral K; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Brownstein CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Rockowitz S; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: christopher.walsh@childrens.harvard.edu.
المصدر: American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1544-1558. Date of Electronic Publication: 2024 Jul 29.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
مواضيع طبية MeSH: Chromosomes, Human, Pair 15*/genetics , Brain*/metabolism , Brain*/pathology , DNA Copy Number Variations* , Autistic Disorder*/genetics, Humans ; Male ; Female ; Autism Spectrum Disorder/genetics ; Chromosome Duplication/genetics ; Chromatin/genetics ; Chromatin/metabolism ; Trisomy/genetics ; Child ; Neurons/metabolism ; Neurons/pathology ; Chromosome Aberrations ; Intellectual Disability
SCR Disease Name: Duplication 15q11-q13 Syndrome
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6دورية أكاديميةCell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain.
المؤلفون: Dias C; Current Address: Department of Pediatrics, Section of Developmental Pediatrics, Section of Genetics and Metabolism, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.; Division of Developmental Medicine, Boston Children's Hospital, Boston, MA 02115.; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115., Mo A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115., Cai C; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115., Sun L; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115., Cabral K; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115., Brownstein CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115., Rockowitz S; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.; Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115., Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115.
المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2024 May 22. Date of Electronic Publication: 2024 May 22.
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
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7دورية أكاديمية
المؤلفون: Hills S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Li Q; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA., Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Schmitz-Abe K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA.
المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63509. Date of Electronic Publication: 2023 Dec 29.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; 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: Genomics*/methods , Computational Biology*/methods, Humans ; Exome Sequencing ; Phenotype ; Alleles
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8دورية أكاديمية
المؤلفون: Shen FX; Harvard Medical School.; Massachusetts General Hospital.; Harvard Law School., Baum ML; Harvard Medical School.; Brigham and Women's Hospital., Martinez-Martin N; Stanford Center for Biomedical Ethics.; Stanford University School of Medicine., Miner AS; Stanford University School of Medicine., Abraham M; Harvard Medical School.; Massachusetts General Hospital., Brownstein CA; Harvard Medical School.; Boston Children's Hospital., Cortez N; Southern Methodist University School of Law., Evans BJ; University of Florida., Germine LT; Harvard Medical School.; McLean Hospital., Glahn DC; Harvard Medical School.; Boston Children's Hospital., Grady C; National Institutes of Health., Holm IA; Harvard Medical School.; Boston Children's Hospital., Hurley EA; Public Responsibility in Medicine and Research., Kimble S; McLean Hospital., Lázaro-Muñoz G; Harvard Medical School.; Massachusetts General Hospital., Leary K; Harvard Medical School.; Harvard University., Marks M; Harvard Law School.; Florida State University College of Law.; Yale Law School., Monette PJ; Harvard Medical School., Onnela JP; Harvard University., O'Rourke PP; Harvard Medical School., Rauch SL; Harvard Medical School.; McLean Hospital.; Mass General Brigham., Shachar C; Harvard Law School., Sen S; University of Michigan Medical School., Vahia I; Harvard Medical School.; McLean Hospital., Vassy JL; Harvard Medical School.; Brigham and Women's Hospital.; VA Boston Healthcare System., Baker JT; Harvard Medical School.; McLean Hospital., Bierer BE; Harvard Medical School.; Brigham and Women's Hospital.; Multi-Regional Clinical Trials Center of Brigham and Women's Hospital and Harvard., Silverman BC; Harvard Medical School.; McLean Hospital.; Mass General Brigham.
المصدر: The American journal of bioethics : AJOB [Am J Bioeth] 2024 Feb; Vol. 24 (2), pp. 69-90. Date of Electronic Publication: 2023 May 08.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 100898738 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-0075 (Electronic) Linking ISSN: 15265161 NLM ISO Abbreviation: Am J Bioeth Subsets: MEDLINE
مواضيع طبية MeSH: Psychiatry* , Mental Disorders*/therapy, Humans ; Artificial Intelligence ; Ethics Committees, Research ; Research Personnel
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9دورية أكاديمية
المؤلفون: Liu Z; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Xin B; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA., Smith IN; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Sency V; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA., Szekely J; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA., Alkelai A; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA., Shuldiner A; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA., Efthymiou S; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK., Rajabi F; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Coury S; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Brownstein CA; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Rudnik-Schöneborn S; Institute for Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Bruel AL; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne, Dijon 21000, France.; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon 21000, France., Thevenon J; Université Grenoble Alpes, Institute for Advanced Biosciences, Grenoble, France., Zeidler S; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL 33155, USA., Schmidt A; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany., Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany., Engels H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany., Peters SO; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, 53105 Bonn, Germany., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo 12622, Egypt., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Zhu C; Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Göteborg 417 56, Sweden.; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Xu Y; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Gao C; Department of Pediatric Rehabilitation Medicine, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450012, China., Sepulveda-Morales T; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro 76226, México., Maroofian R; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK., Alkhawaja IA; Al-Bashir Hospital, Pediatric Department, Pediatric Neurology Unit, Amman, Jordan., Khawaja M; Prince Hamzah Hospital, Amman, Jordan.; Hospital Clínic and Fundació Hospital Sant Joan de Déu de Martorell/Barcelona, Barcelona, Spain., Alhalasah H; Al-Karak Government Teaching Hospital, Al-Karak, Jordan., Houlden H; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK., Madden JA; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Turchetti V; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, London WC1N 3BG, UK., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City 13060, Kuwait., Agrawal PB; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.; Division of Neonatology, Department of Pediatrics, University of Miami School of Medicine and Jackson Health System, Miami, FL 33136, USA., Schatz U; Institute for Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Rotenberg A; Houston Specialty Clinic, Houston, TX 77024, USA., Rotenberg J; Houston Specialty Clinic, Houston, TX 77024, USA., Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam 3015 GD, The Netherlands., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA., Thiffault I; Genomic Medicine Center, Children's Mercy Kansas City, Children's Mercy Research Institute, Kansas City, MO 64108, USA., Hirsch S; Institute if Human Genetics, Heidelberg University Hospital, 69120 Heidelberg, Germany., Hempel M; Institute if Human Genetics, Heidelberg University Hospital, 69120 Heidelberg, Germany., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Lee H; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Sarn NB; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Eng C; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro 76226, México., Zhang B; Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, USA., Wang H; DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA.
المصدر: Human molecular genetics [Hum Mol Genet] 2023 Oct 04; Vol. 32 (20), pp. 2981-2995.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
مواضيع طبية MeSH: Intellectual Disability*/genetics , Intellectual Disability*/complications , Autism Spectrum Disorder*/genetics , Autistic Disorder*/genetics , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/complications, Male ; Humans ; Protein Phosphatase 1/genetics ; Glucose ; Glycogen
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10دورية أكاديمية
المؤلفون: Sun J; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA., Ocay DD; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Anaesthesia, Harvard Medical School, Boston, MA 02115, USA., Halpin M; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA., Lobo K; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA., Frohman DFT; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA., Donado C; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Anaesthesia, Harvard Medical School, Boston, MA 02115, USA., Brownstein CA; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Genetti CA; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Madden A; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Berde CB; Department of Anesthesiology, Critical Care, and Pain Medicine, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Anaesthesia, Harvard Medical School, Boston, MA 02115, USA.
المصدر: Children (Basel, Switzerland) [Children (Basel)] 2023 Jul 26; Vol. 10 (8). Date of Electronic Publication: 2023 Jul 26.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE
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