المؤلفون: Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

المصدر: HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)

مصطلحات موضوعية: genotype-phenotype correlation, skeletal dysplasia, HPO terms, quantitative phenotyping cluster heatmap, molecular diagnosis, traits and OMIM clinical synopsis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000555; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/111938d44884445f92d7831c96a453cf

المؤلفون: Zainab Al Masseri, Danny E. Miller, Angela E. Lin, Fowzan S. Alkuraya, Colby T. Marvin, Deborah A. Nickerson, Clara C. Hildebrandt, Pedro A. Sanchez-Lara, John M. Graham, Hamad Al-Zaidan, Katheryn Grand, Nisha Patel, Janson White, Michael J. Bamshad, Daniela N. Schweitzer

المصدر: American Journal of Medical Genetics Part A. 185:2136-2149

مصطلحات موضوعية: Genetics, Whole genome sequencing, medicine.diagnostic_test, Genetic heterogeneity, Van den Ende-Gupta syndrome, Biology, medicine.disease, Blepharophimosis, Arachnodactyly, medicine, Gene, Genetics (clinical), Exome sequencing, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bd29cc8eb495578e3a20818965888c71
https://doi.org/10.1002/ajmg.a.62194

المؤلفون: Christopher M. Grochowski, Richard A. Gibbs, Jesper Eisfeldt, Anna Lindstrand, Juliana F. Mazzeu, James R. Lupski, Donna M. Muzny, Chaofan Zhang, Claudia M.B. Carvalho, V. Reid Sutton, Shalini N. Jhangiani, Janson White, Zeynep Coban Akdemir

المصدر: Am J Med Genet A

مصطلحات موضوعية: Male, Dishevelled Proteins, Limb Deformities, Congenital, Dwarfism, Genes, Recessive, Locus (genetics), Biology, Receptor Tyrosine Kinase-like Orphan Receptors, Article, Craniofacial Abnormalities, Genetic Heterogeneity, symbols.namesake, Locus heterogeneity, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Wnt Signaling Pathway, Genetics (clinical), Exome sequencing, Genes, Dominant, Sanger sequencing, Comparative Genomic Hybridization, Whole Genome Sequencing, Genetic heterogeneity, Wnt signaling pathway, ROR2, medicine.disease, Robinow syndrome, Urogenital Abnormalities, Genomic Structural Variation, symbols, Female, Oxidoreductases, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd658249eddde139dbc36927c81af436
https://doi.org/10.1002/ajmg.a.61908

المؤلفون: Jonathan A. Bernstein, Leah J. Rowe, Kimberly Foss, Samin A. Sajan, Kun Xia, Juliane Hoyer, Anita E. Beck, Shayna Svihovec, Vincent Gatinois, Lance H. Rodan, Roksana Sasanfar, Christiane Zweier, Alban Ziegler, Sonal Mahida, Kristin G. Monaghan, Charlotte W. Ockeloen, André Reis, Milen Velinov, Janson White, Evan E. Eichler, Nasim Vasli, Jennifer Friedman, Constance Smith-Hicks, Gilles Morin, Rachel Westman, Sandra Yang, Joshua Scheck, Christian Thiel, John B. Vincent, Deborah A. Nickerson, Michelle E. Ernst, Jacqueline Harris, Natasha Zeid, Bernt Popp, Francesca Mattioli, Zehra Agha, Ellen van Binsbergen, Julian A. Martinez-Agosto, Karen W. Gripp, Gwenaël Le Guyader, Catherine Vincent-Delorme, Lori-Anne Schillaci, Jennefer N. Kohler, Kimberly A. Aldinger, Laurence J. Walsh, Jessica X. Chong, David Geneviève, Rami Abou Jamra, Amy Yang, Cigdem I. Akman, Sha Tang, Ricardo Harripaul, Rick Person, Marleen Simon, Hui Guo, Muhammad Ayub, Laura S. Farach, Patricia Blanchet, Austin Larson, Marie Vincent, Luis Rohena, Michael J. Bamshad, Raheel Qamar, Gregory M. Enns, Joshua Rotenberg, Katelyn Payne, William J. Sunderland, Anne C.-H. Tsai, Annika M. Dries, Michèle Mathieu-Dramard, Dominique Bonneau, Ghayda M. Mirzaa, Bénédicte Gérard, Elise Schaefer, Amélie Piton, Patricia G Wheeler

المساهمون: Division of Medical Genetics [Seattle], University of Washington [Seattle], Détoxication et réparation tissulaire, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Center for Integrative Brain Research [Seattle, WA, USA], University of Washington [Seattle]-Seattle Children's Research Institute, Central South University [Changsha], Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health (CAMH), Center for Integrative Brain Research, Ambry Genetics [Aliso Viejo, CA, USA], China Agricultural University (CAU), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Kennedy Krieger Institute [Baltimore], Institute of Human Genetics [Erlangen, Allemagne], Universität Leipzig, Yale University [New Haven], Oregon Health and Science University [Portland] (OHSU), McGovern Medical School [Houston, Texas], Indiana University - Purdue University Indianapolis (IUPUI), Indiana University System, Indiana University [South Bend], The University of Texas at San Antonio (UTSA), New York State Psychiatric Institute, Columbia University [New York], Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], CHU Strasbourg, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University Medical Center [Utrecht], Stanford University School of Medicine [CA, USA], Memorial Hermann Heart and Vascular Institute [Houston, TX, USA], University of Central Florida [Orlando] (UCF), Department of Pediatrics [Univ California San Diego] (UC San Diego), School of Medicine [Univ California San Diego] (UC San Diego), University of California [San Diego] (UC San Diego), University of California (UC)-University of California (UC)-University of California [San Diego] (UC San Diego), University of California (UC)-University of California (UC), University of Colorado Anschutz [Aurora], Department of Chemistry and Biochemistry [Bern], University of Bern, Columbia University Irving Medical Center (CUIMC), Signal Processing Lab [Boise - Idaho], Boise State University, University Hospitals Case Medical Center (CLEVELAND - UHCMC), University Hospitals Case Medical Center, Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of Psychology [University North Carolina Wilmington], University of North Carolina [Wilmington] (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service d'hématologie et immunologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Amiens-Picardie, Institut d'histoire du temps présent (IHTP), Centre National de la Recherche Scientifique (CNRS), University of Massachusetts Medical School [Worcester] (UMASS), University of Massachusetts System (UMASS), Queen's University [Kingston, Canada], Department of Molecular Genetics [Toronto], University of Toronto, GeneDx [Gaithersburg, MD, USA], Department of Genome Sciences [Seattle] (GS), Department of Pediatrics [Stanford], Stanford Medicine, Stanford University-Stanford University, Stanford School of Medicine [Stanford], Stanford University, University of California (UC), COMSATS Institute of Information Technology [Islamabad] (CIIT), Boston Children's Hospital, University of California [Los Angeles] (UCLA), Radboud University Medical Center [Nijmegen], Centre hospitalier universitaire de Nantes (CHU Nantes), Department of Psychiatry, Seattle University [Seattle], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Leipzig [Leipzig], Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Pediatrics [san Diego], UC San Diego School of Medicine, Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of California

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, 22, 538-546
Genetics in Medicine, 22, 3, pp. 538-546

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Adolescent, Autism Spectrum Disorder, autism spectrum disorders, Nerve Tissue Proteins, Neuroimaging, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, Neurodevelopmental disorder, ZNF292, Intellectual disability, mental disorders, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), Exome sequencing, Genetics, Zinc finger, next generation sequencing, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism spectrum disorder, intellectual disability, Neurodevelopmental Disorders, Child, Preschool, next-generation sequencing, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Carrier Proteins, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f3e30c4e22e927d1381e056b7dcbef
http://europepmc.org/articles/PMC7060121

المؤلفون: Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, null Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

المصدر: Human Genetics and Genomics Advances
HGG Advances, Vol 3, Iss 1, Pp 100074-(2022)
Zhang, C, Jolly, A, Shayota, B J, Mazzeu, J F, Du, H, Dawood, M, Soper, P C, Ramalho de Lima, A, Ferreira, B M, Coban-Akdemir, Z, White, J, Shears, D, Thomson, F R, Wainwright, A, Wordsworth, P, Oldridge, M, Lester, T, Calder, A D, Dumic, K, Banka, S, Donnai, D, Jhangiani, S N, Potocki, L, Chung, W K, Mora, S, Northrup, H, Ashfaq, M, Rosenfeld, J A, Mason, K, Pollack, L C, McConkie-Rosell, A, Kelly, W, McDonald, M, Hauser, N S, Leahy, P, Powell, C M, Boy, R, Honjo, R S, Kok, F, Martelli, L R, Filho, V O, Genomics England Research Consortium, Muzny, D M, Gibbs, R A, Posey, J E, Liu, P, Lupski, J R & Sutton, V R 2022, ' Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome : WNT signaling perturbation and phenotypic variability ', Human Genetics and Genomics Advances, vol. 3, no. 1, 100074 . https://doi.org/10.1016/j.xhgg.2021.100074

مصطلحات موضوعية: quantitative phenotyping cluster heatmap, indel mutations, QH426-470, genotype-phenotype correlation, skeletal dysplasia, Article, HPO terms, DVL2, molecular diagnosis, Genetics, Molecular Medicine, screw-tail breed dogs, traits and OMIM clinical synopsis, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e77b81a3eca2f20efcc27c10f904b73
https://pubmed.ncbi.nlm.nih.gov/35047859

المؤلفون: Serap Turan, Zeynep Coban Akdemir, Angad Jolly, Firdevs Bas, Davut Pehlivan, Hadia Hijazi, Zehra Yavas Abali, Tuula Rinne, Jennifer E. Posey, Yavuz Bayram, Tahsin Stefan Barakat, Tulay Tos, Roberto Colombo, Shalini N. Jhangiani, Gozde Yesil, Sukran Poyrazoglu, Zeynep Atay, Alper Gezdirici, James R. Lupski, Donna M. Muzny, Tulay Guran, Zehra Aycan, Richard A. Gibbs, Elif Yilmaz Gulec, Janson White, Serpil Bas, Ender Karaca, Feyza Darendeliler, Abdullah Bereket, Bülent Hacıhamdioğlu, Saygin Abali

المساهمون: İstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Bülent Hacıhamdioğlu / 0000-0001-7070-6429, Hacihamdioglu, Bulent, Bülent Hacıhamdioğlu / GBK-6773-2022, Bülent Hacıhamdioğlu / 22134579900, Clinical Genetics, YEŞİL, Gözde, Jolly, Angad, Bayram, Yavuz, Turan, Serap, Aycan, Zehra, Tos, Tulay, Abali, Zehra Yavas, Akdemir, Zeynep Hande Coban, Hijazi, Hadia, Bas, Serpil, Atay, Zeynep, Guran, Tulay, Abali, Saygin, Bas, Firdevs, Darendeliler, Feyza, Colombo, Roberto, Barakat, Tahsin Stefan, Rinne, Tuula, White, Janson J., Yesil, Gozde, Gezdirici, Alper, Gulec, Elif Yilmaz, Karaca, Ender, Pehlivan, Davut, Jhangiani, Shalini N., Muzny, Donna M., Poyrazoglu, Sukran, Bereket, Abdullah, Gibbs, Richard A., Posey, Jennifer E., Lupski, James R.

المصدر: Journal of Clinical Endocrinology and Metabolism, 104, 8, pp. 3049-3067
Journal of Clinical Endocrinology and Metabolism, 104(8), 3049-3067. Endocrine Society
J Clin Endocrinol Metab
Journal of Clinical Endocrinology and Metabolism, 104, 3049-3067

مصطلحات موضوعية: MECHANISM, 0301 basic medicine, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, PROTEIN, Cell Cycle Proteins, Disease, Primary Ovarian Insufficiency, VARIANTS, Biochemistry, Cohort Studies, 0302 clinical medicine, Endocrinology, Gene Frequency, Locus heterogeneity, FAILURE, Exome sequencing, Jolly A., Bayram Y., Turan S., Aycan Z., Tos T., Abali Z. Y. , Hacihamdioglu B., Akdemir Z. H. C. , Hijazi H., Bas S., et al., -Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease-, JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.104, ss.3049-3067, 2019, Genetics, 030219 obstetrics & reproductive medicine, Minichromosome Maintenance Proteins, REARRANGEMENTS, Oligogenic Inheritance, DNA-Binding Proteins, INSIGHTS, Female, medicine.medical_specialty, Immunoglobulins, Locus (genetics), Genomics, Biology, 03 medical and health sciences, Hypergonadotropic hypogonadism, All institutes and research themes of the Radboud University Medical Center, Internal medicine, Exome Sequencing, medicine, Humans, HOP2-MND1, Settore BIO/10 - BIOCHIMICA, Allele frequency, Clinical Research Articles, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, MUTATIONS, Hypogonadism, Biochemistry (medical), DNA Helicases, medicine.disease, GENE, 030104 developmental biology, exome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aa0ee3a8715c529671d5ba128b43d25
https://doi.org/10.1210/jc.2019-00248

المؤلفون: Christian P. Schaaf, Janson White, Christopher M. Grochowski, Chadi A. Calarge, Jiani Yin, Ricardo Lozoya, Madelyn A. Gillentine

المصدر: Journal of Affective Disorders. 239:247-252

مصطلحات موضوعية: 0301 basic medicine, Population, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Medicine, Copy-number variation, Young adult, education, education.field_of_study, biology, business.industry, CHRNA7, Beck Depression Inventory, medicine.disease, Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, Mood, biology.protein, Major depressive disorder, Anxiety, medicine.symptom, business, 030217 neurology & neurosurgery, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f54098347749069e4cf14afcf9dbc5b8
https://doi.org/10.1016/j.jad.2018.07.017

المؤلفون: Mary M. Jenkins, Lawrence C. Brody, Kim M. Keppler-Noreuil, Elizabeth E. Blue, Christopher J. Bean, Tonia C. Carter, KJ Moore, Mahsa M. Yazdy, Janson White, James C. Mullikin, Denise M. Kay, Paul A. Romitti, Faith Pangilinan, Daniel McGoldrick, Wendy N. Nembhard, Joshua D. Smith, Michael J. Bamshad, Xiang-Yang Lou, Jennita Reefhuis, Deborah A. Nickerson, Andrew F. Olshan, Nanette Nascone-Yoder, Jessica X. Chong, Richard H. Finnell, Lynn M Almli, Gary M. Shaw, Nisc Comparative Sequencing Program, Philip J. Lupo, Stuart K. Shapira, Marcia L. Feldkamp

المصدر: Birth Defects Res

مصطلحات موضوعية: 0301 basic medicine, Embryology, Sequence analysis, Health, Toxicology and Mutagenesis, 030105 genetics & heredity, Biology, Toxicology, Genome, Article, Congenital Abnormalities, 03 medical and health sciences, Genetic variation, Exome Sequencing, medicine, Humans, Family, Gene–environment interaction, Exome sequencing, Genetics, Pregnancy, medicine.disease, genomic DNA, 030104 developmental biology, Telephone interview, Pediatrics, Perinatology and Child Health, Gene-Environment Interaction, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb5656c6d83772b65490e727f6e565c0
https://pubmed.ncbi.nlm.nih.gov/31328417

المؤلفون: Deborah A. Nickerson, Pengfei Liu, Nara Sobreira, Jessica X. Chong, Eric Boerwinkle, Davut Pehlivan, Samantha Baxter, Nan Wu, V. Reid Sutton, David Valle, Jill A. Rosenfeld, Dimitri Avramopoulos, Tamar Harel, Anne H. O’Donnell-Luria, Murat Gunel, Jennifer E. Posey, Tara C. Matise, Richard P. Lifton, James R. Lupski, Heidi L. Rehm, Donna M. Muzny, Claudia M.B. Carvalho, Steven Buyske, Zeynep Coban Akdemir, Daniel G. MacArthur, C. D. Boehm, Mark Gerstein, Kimberly F. Doheny, Janson White, Richard A. Gibbs, Sushant Kumar, Shalini N. Jhangiani, Michael J. Bamshad, Shrikant Mane, P. Dane Witmer, Ada Hamosh

مصطلحات موضوعية: 0301 basic medicine, Genomics, Locus (genetics), Computational biology, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, symbols.namesake, Genetic Heterogeneity, Databases, Genetic, Exome Sequencing, Humans, Genetic Predisposition to Disease, Allele, Genetics (clinical), Exome sequencing, Genome, Human, Genetic Diseases, Inborn, Oligogenic Inheritance, Human genetics, United States, Pedigree, 030104 developmental biology, National Institutes of Health (U.S.), Mendelian inheritance, symbols, Human genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d520799dffb7cfa41be7ecb5193816e3
https://europepmc.org/articles/PMC6691975/

المؤلفون: Ekkehard Wilichowski, Richard A. Gibbs, Fernando Kok, Gholson J. Lyon, Gerarda Cappuccio, René Santer, Ignatia B. Van den Veyver, Friedhelm Hildebrandt, Christopher M. Grochowski, Janson White, Nicola Brunetti-Pierri, Dilek Aktas, Ender Karaca, Joao Paulo Kitajima, Reid J. Robison, Sevcan Tug Bozdogan, V. Reid Sutton, Kai Wang, Davor Lessel, Michael J. Bamshad, Shalini N. Jhangiani, Michael O. Dorschner, Ian A. Glass, Donna M. Muzny, Mehmet Alikasifoglu, Robert Kleyner, Margaret Yoon, Jessika Johannsen, Hadas Ityel, James R. Lupski, Tatjana Bierhals, Hatip Aydin, Lucia Ortega, Hilde Van Esch, Bibiana K Y Wong, Ingrid S. Paine, Adriano Magli, Mir Reza Bekheirnia, Ariel Brautbar, Maja Hempel, Wai Lan Yeung, Zeynep Coban Akdemir, Saskia B. Wortmann, Taylor Marmorale, Jennifer E. Posey, Yavuz Bayram, Fabíola Paoli Monteiro, Michele Pinelli, Sarah Rosenheck, Erasmo Barbante Casella, Joannie Hui

المساهمون: Paine, I., Posey, J. E., Grochowski, C. M., Jhangiani, S. N., Rosenheck, S., Kleyner, R., Marmorale, T., Yoon, M., Wang, K., Robison, R., Cappuccio, G., Pinelli, M., Magli, A., Coban Akdemir, Z., Hui, J., Yeung, W. L., Wong, B. K. Y., ORTEGA DE LUNA, Ernesto, Bekheirnia, M. R., Bierhals, T., Hempel, M., Johannsen, J., Santer, R., Aktas, D., Alikasifoglu, M., Bozdogan, S., Aydin, H., Karaca, E., Bayram, Y., Ityel, H., Dorschner, M., White, J. J., Wilichowski, E., Wortmann, S. B., Casella, E. B., Kitajima, J. P., Kok, F., Monteiro, F., Muzny, D. M., Bamshad, M., Gibbs, R. A., Sutton, V. R., Van Esch, H., Brunetti-Pierri, N., Hildebrandt, F., Brautbar, A., Van den Veyver, I. B., Glass, I., Lessel, D., Lyon, G. J., Lupski, J. R., Çukurova Üniversitesi

المصدر: Am. J. Hum. Genet. 105, 302-316 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Identification, Mutation, Missense, Common-Cause, Paralogous Gene, Biology, Article, DEAD-box RNA Helicases, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Genetics, human paralog, Nmd, Missense mutation, Humans, Gene, Genetics (clinical), Exome sequencing, Genetic Association Studies, Protein, Mutants, Variants, Infant, Newborn, Helicase, Infant, developmental delay, DExD/H-box RNA helicase family, human paralogs, intellectual disability, Phenotype, RNA Helicase A, De-Novo, 3. Good health, Neoplasm Proteins, Pedigree, 030104 developmental biology, Neurodevelopmental Disorders, biology.protein, Developmental Delay, Dexd/h-box Rna Helicase Family, Human Paralogs, Female, DDX3X, Mutations, 030217 neurology & neurosurgery, RNA Helicases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79830e5d7e959e087b30e0ad8291916b
http://hdl.handle.net/11588/757969