المؤلفون: Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, Karla A. Peña‐Guerra, Yolande van Bever, Barbara W. van Paassen, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas M. Allen, Caroline M. Kehoe, Hannah K. Robinson, Lewis Pang, Selina Banu, Mashaya Zaman, Stéphanie Efthymiou, Henry Houlden, Irma Järvelä, Leena Lauronen, Tuomo Määttä, Isabelle Schrauwen, Suzanne M. Leal, Claudia Ruivenkamp, Daniela Q.C.M. Barge‐Schaapveld, Cacha Peeters‐Scholte, Hamid Galehdari, Neda Mazaheri, Sanjay M. Sisodiya, Victoria Harrison, Angela Sun, Jenny Thies, Luis Alberto Pedroza, Yana Lara-Taranchenko, Iván K. Chinn, James R. Lupski, Alexandra Garza-Flores, Jeffery McGlothlin, Lin Yang, Shaoping Huang, Xiaodong Wang, Tamison Jewett, Gretchen Rosso, Xiangmin Lin, Shehla Mohammed, J. Lawrence Merritt, Ghayda Mirzaa, Andrew E. Timms, Joshua Scheck

مصطلحات موضوعية: Molecular Basis of Rett Syndrome and Related Disorders, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Functions and Regulation of RNA Editing by ADARs, Molecular Biology, Ubiquitin-Proteasome Proteolytic Pathway, Transcriptome Diversity, Penetrance, Intellectual disability, Phenotype, Epilepsy, Cohort, Autism spectrum disorder, Autism, Copy-number variation, Neurodevelopmental disorder, Biology, Medicine, Bioinformatics, FOS Computer and information sciences, Neuroscience, Genome, Psychiatry, Internal medicine, Gene

العلاقة: https://dx.doi.org/10.60692/1yqbk-bvm95Test

الإتاحة: https://doi.org/10.60692/sm1je-zbe5110.60692/1yqbk-bvm95Test

المؤلفون: Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver

المصدر: Genet Med

مصطلحات موضوعية: Phenotype, Exome Sequencing, Humans, Exome, Genomics, Article, Genetic Association Studies, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b797c7738329d28c572a5aa99b98ff15Test
https://doi.org/10.1016/j.gim.2021.12.005Test

المؤلفون: Zou Pan, Marielle E. van Gijn, Marjolein H. Willemsen, Mariet W. Elting, Susanne Koning, Daniel C. Koboldt, Rebecca Baud, Renzo Guerrini, Ghayda M. Mirzaa, Laurence E. Walsh, Kim L. McBride, Jenny Thies, Andrew E. Timms, Shaoping Huang, Gretchen E. Rosso, Joshua Scheck, Haley McConkey, Matthew A. Deardorff, Peter D. Turnpenny, Suzanne M. Leal, Sanjay M. Sisodiya, Lin Yang, Melissa Lees, Cacha M.P.C.D. Peeters-Scholte, Henry Houlden, Marielle Alders, J. Austin Hamm, Karla A. Peña-Guerra, Richard E. Person, Leena Lauronen, Hannah K. Robinson, Theresa Mihalic Mosher, Alexandra Garza-Flores, Victoria Harrison, Tuomo Määttä, Daniela Q.C.M. Barge-Schaapveld, James R. Lupski, Houda Zghal Elloumi, Francisco J. Guzmán-Vega, Tamison Jewett, Siddharth Banka, Barbara W. van Paassen, J. Lawrence Merritt, Angela Sun, Yana Lara-Taranchenko, Irma Järvelä, Ivan K. Chinn, Claudia A. L. Ruivenkamp, Nicholas M. Allen, Xiaodong Wang, Amy Crunk, Selina H. Banu, Maura R.Z. Ruzhnikov, Jeffery McGlothlin, Mashaya Zaman, Adam Jackson, Stefan T. Arold, Bert B.A. de Vries, Jing Peng, Lauren Schenck, Isabelle Schrauwen, Marjon van Slegtenhorst, Luis Alberto Pedroza, Bekim Sadikovic, Annalisa Vetro, Reshmi Ramakrishnan, Kristin G. Monaghan, Kelly J. Cardona-Londoño, Catherine Quindipan, Kristina Lanko, Rolph Pfundt, Caroline M. Kehoe, Martino Montomoli, Christian Gilissen, Hamid Galehdari, Yolande van Bever, Jennifer Keller-Ramey, Sadegheh Haghshenas, Neda Mazaheri, Stephanie Efthymiou, Reza Maroofian, Lewis Pang, Fleur Vansenne, Abeltje M. Polstra, Kara C. Klemp, Marjolein J.A. Weerts, Xi Lin, Julia Baptista, Tahsin Stefan Barakat, Anneke Kievit, Adi Reich, Stephen R. Braddock, Shehla Mohammed, Abbey M. Putnam, Jennifer Kerkhof, Matthew Pastore, Sally Ann Lynch

المساهمون: Graduate School, ANS - Neuroinfection & -inflammation, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output, Human genetics, VU University medical center, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, HUS Medical Imaging Center, Clinicum, BioMag Laboratory, HUS Children and Adolescents, Kliinisen neurofysiologian yksikkö

المصدر: Genetics in Medicine
Genetics in medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. SPRINGERNATURE
Genetics in Medicine, 23(11), 2122-2137. Nature Publishing Group
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137 . https://doi.org/10.1038/s41436-021-01246-2Test
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 2122-2137
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01246-2Test

مصطلحات موضوعية: Male, INTELLECTUAL DISABILITY, GENES, Language delay, VARIANTS, Biology, Bioinformatics, 3124 Neurology and psychiatry, Article, 12Q24.31, SETD1B, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neurodevelopmental disorder, Seizures, Intellectual disability, medicine, Humans, MICRODELETION, Global developmental delay, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 3112 Neurosciences, RECOGNITION, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Histone-Lysine N-Methyltransferase, medicine.disease, Penetrance, Human genetics, Phenotype, Neurodevelopmental Disorders, MOTIF, Autism, METHYLTRANSFERASE, 3111 Biomedicine, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e4f87d1b2de6f4ec6880e740ae29d4Test
https://doi.org/10.1038/s41436-021-01246-2Test

المؤلفون: Thashi Bharadwaj, Anushree Acharya, Khurram Liaqat, Gordon A. Awandare, Kevin K Esoh, Elvis Twumasi Aboagye, Shaheen Mowla, Suzanne M. Leal, Sulman Basit, Isabelle Schrauwen, Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Liz M Nouel-Saied, Wasim Ahmad, Ambroise Wonkam

المصدر: Journal of Human Genetics

مصطلحات موضوعية: Male, Models, Molecular, Genotype, In silico, Biology, Article, Structure-Activity Relationship, 03 medical and health sciences, chemistry.chemical_compound, Exon, 0302 clinical medicine, Exome Sequencing, Genetics, medicine, Humans, Solute Carrier Family 12, Member 2, Genetic Predisposition to Disease, Inner ear, Amino Acid Sequence, Hearing Loss, Gene, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Disease genetics, Genetic heterogeneity, Sequence Analysis, DNA, Pedigree, Phenotype, medicine.anatomical_structure, chemistry, Mutation, Female, Neurological disorders, 030217 neurology & neurosurgery, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71acd39b4617391a36f199eda43b95ddTest
https://doi.org/10.1038/s10038-021-00954-6Test

المؤلفون: Ingrid M. Wentzensen, Patrick Dunn, Caleb Heid, Esperanza Font-Montgomery, Anna Chassevent, Solveig Heide, Vinod K. Misra, Leandra Folk, Wendy K. Chung, Alexandra Afenjar, Sandra Whalen, Suzanne M. Leal, Thomas Smol, Erin Torti, Kathleen Brown, Isabelle Schrauwen, Anushree Acharya, Magali Barth, Mayada Helal, Mélanie Rama, Thomas Courtin, Irma Järvelä, Maura R.Z. Ruzhnikov, Farouq Thabet, Boris Keren, Haluk Kavus, Kara Withrow, J. Austin Hamm, Elizabeth A. Normand, Mitch Cunningham, Constance Smith-Hicks, Camille Fallot, Fanggeng Zou, Abdul Nasir, Donald R. Love, Alban Ziegler

المساهمون: Columbia University Medical Center (CUMC), Columbia University [New York], The George Washington University (GW), University of Agriculture Faisalabad - UAF (PAKISTAN), GeneDx [Gaithersburg, MD, USA], Stanford University, CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut de génétique médicale, University of Colorado Anschutz [Aurora], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Kennedy Krieger Institute [Baltimore], Johns Hopkins University School of Medicine [Baltimore], CHU Pitié-Salpêtrière [AP-HP], University of Missouri [Columbia] (Mizzou), University of Missouri System, Sidra Medicine [Doha, Qatar], Children's Hospital of Michigan, Central Michigan University (CMU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩

مصطلحات موضوعية: 0301 basic medicine, INTELLECTUAL DISABILITY, GENES, GENETICS, phenotype, [SDV]Life Sciences [q-bio], human genetics, Biology, VARIANTS, UBIQUITIN LIGASE, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Neurodevelopmental disorder, Intellectual disability, medicine, Missense mutation, Genetics (clinical), Genetics, Massive parallel sequencing, MUTATIONS, neurology, 1184 Genetics, developmental biology, physiology, medicine.disease, Penetrance, Human genetics, Hypotonia, 030104 developmental biology, NEDL2, genetic variation, 3111 Biomedicine, medicine.symptom, HECW2, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b57ea74f5fb77388de1042d0f1a0159Test
https://hal.science/hal-03998194/documentTest

المؤلفون: Liz M Nouel-Saied, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä, Magda Kamila Kadlubowska, Isabelle Schrauwen, Auli Siren, Anushree Acharya, Suzanne M. Leal

المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Tampere University, Kanta-Häme Central Hospital Hämeenlinna

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Disease, QH426-470, 030105 genetics & heredity, Neurodevelopmental disorder, Gene duplication, Intellectual disability, Chromosome Duplication, Medicine, Genetics (clinical), Exome sequencing, Oligonucleotide Array Sequence Analysis, X-chromosome, Comparative Genomic Hybridization, Clinical Report, DEVELOPMENTAL DELAY, Chromosomal fragile site, neurodevelopmental disorders, Exons, Pedigree, Phenotype, Female, Adult, medicine.medical_specialty, GENES, Adolescent, DNA Copy Number Variations, Clinical Reports, Structural variation, 03 medical and health sciences, Young Adult, Intellectual Disability, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, AUTISM, Molecular Biology, Alleles, Genetic Association Studies, X‐chromosome, Chromosomes, Human, X, MUTATIONS, business.industry, microduplication, medicine.disease, DUPLICATION, DELETIONS, 030104 developmental biology, Autism, 3111 Biomedicine, business, MENTAL-RETARDATION

وصف الملف: fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1033800b63a679ae56ad954114a002Test
http://europepmc.org/articles/PMC8683627Test

المؤلفون: Anushree, Acharya, Haluk, Kavus, Patrick, Dunn, Abdul, Nasir, Leandra, Folk, Kara, Withrow, Ingrid M, Wentzensen, Maura R Z, Ruzhnikov, Camille, Fallot, Thomas, Smol, Mélanie, Rama, Kathleen, Brown, Sandra, Whalen, Alban, Ziegler, Magali, Barth, Anna, Chassevent, Constance, Smith-Hicks, Alexandra, Afenjar, Thomas, Courtin, Solveig, Heide, Esperanza, Font-Montgomery, Caleb, Heid, J Austin, Hamm, Donald R, Love, Farouq, Thabet, Vinod K, Misra, Mitch, Cunningham, Suzanne M, Leal, Irma, Jarvela, Elizabeth A, Normand, Fanggeng, Zou, Mayada, Helal, Boris, Keren, Erin, Torti, Wendy K, Chung, Isabelle, Schrauwen

المصدر: Journal of medical genetics. 59(7)

مصطلحات موضوعية: Phenotype, Genotype, Neurodevelopmental Disorders, Seizures, Intellectual Disability, Ubiquitin-Protein Ligases, Humans, Muscle Hypotonia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::9de08ea94e26cd350b69b4c4356e5bd3Test
https://pubmed.ncbi.nlm.nih.gov/34321324Test

المؤلفون: Abid Jan, Muhammad Salman Chishti, Sabba Mehmood, Richard A. Spritz, Santos-Cortez Rlp, Farooq Ahmad, Muhammad Ansar, Shaheen Shahzad, Wasim Ahmad, Paul Coucke, Hussain Ali R, Asad Ullah Khan, Izoduwa Abbe, Kwanghyuk Lee, Michael J. Bamshad, Khadim Shah, Suzanne M. Leal, Deborah A. Nickerson

المصدر: International Journal of Dermatology. 56:1406-1413

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Mutational Analysis, Lipoxygenase, Filaggrin Proteins, Ichthyosis Vulgaris, Consanguinity, 030207 dermatology & venereal diseases, Blister, 0302 clinical medicine, INDEL Mutation, Intermediate Filament Proteins, Exome, Exome sequencing, Sanger sequencing, Genetics, integumentary system, Ichthyosis, Homozygote, Nuclear Proteins, Skin Diseases, Genetic, 1-Acylglycerol-3-Phosphate O-Acyltransferase, Disease gene identification, Aldehyde Oxidoreductases, Epidermolysis Bullosa Dystrophica, Neoplasm Proteins, Pedigree, DNA-Binding Proteins, Phenotype, symbols, Female, Epidermolysis Bullosa, Collagen Type VII, Dermatology, Lipid Metabolism, Inborn Errors, Article, Mitochondrial Proteins, 03 medical and health sciences, symbols.namesake, Rare Diseases, Muscular Diseases, medicine, Humans, Protoporphyrinogen Oxidase, Photosensitivity Disorders, Gene, Periodontal Diseases, Xeroderma Pigmentosum, Flavoproteins, business.industry, Keratin-14, Genodermatosis, Membrane Proteins, Ichthyosiform Erythroderma, Congenital, Endonucleases, medicine.disease, Sjogren-Larsson Syndrome, 030104 developmental biology, Epidermolysis Bullosa Simplex, Porphyria, Variegate, business, Ichthyosis, Lamellar, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47257500b46c6f1326d22c2511d47a62Test
https://doi.org/10.1111/ijd.13778Test

المؤلفون: Reka Ripszam, György Kosztolányi, Renata Szalai, Béla Melegh, Kinga Hadzsiev, Ágnes Till, Isabelle Schrauwen, Suzanne M. Leal, Anushree Acharya, Sámuel Komoly, Györgyi Csábi

المصدر: Experimental and Molecular Pathology. 115:104471

مصطلحات موضوعية: Male, 0301 basic medicine, Hemimegalencephaly, Adolescent, Clinical Biochemistry, Inheritance Patterns, Germline mosaicism, Biology, Pathology and Forensic Medicine, Fingers, 03 medical and health sciences, 0302 clinical medicine, medicine, Polymicrogyria, Humans, Megalencephaly, Child, Molecular Biology, Exome sequencing, Genetics, Polydactyly, Mosaicism, Siblings, Syndrome, Toes, medicine.disease, Perisylvian polymicrogyria, Magnetic Resonance Imaging, Pedigree, Germ Cells, Phenotype, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Proto-Oncogene Proteins c-akt, Hydrocephalus, Ventriculomegaly

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfdabd2afc86d7fd58cc32de90fe6051Test
https://doi.org/10.1016/j.yexmp.2020.104471Test

المؤلفون: Zil E Huma Bashir, Inna A. Belyantseva, Sulaiman Shams, Muhammad Ansar, Hang Dai, Dost Muhammad, Syed Irfan Raza, Atteeq U. Rehman, Thomas B. Friedman, Rana A. Ali, Robert J. Morell, Michael J. Bamshad, Xin Wang, Muhammad Jawad Hassan, Shaheen Shahzad, Wasim Ahmad, Tanveer A. Qaiser, Deborah A. Nickerson, Joshua D. Smith, Regie Lyn P. Santos-Cortez, Rabia Faridi, Kwanghyuk Lee, Sheikh Riazuddin, Anushree Acharya, Suzanne M. Leal, Rivka L. Isaacson

المصدر: The American Journal of Human Genetics. 98:331-338

مصطلحات موضوعية: Models, Molecular, 0301 basic medicine, Hearing loss, Molecular Sequence Data, Mutation, Missense, Genes, Recessive, Locus (genetics), Biology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Asian People, Sphingosine, Report, otorhinolaryngologic diseases, Genetics, medicine, Humans, Missense mutation, Genetics(clinical), Exome, Amino Acid Sequence, Profound hearing impairment, Hearing Loss, Sphingosine-1-Phosphate Receptors, Gene, Genetics (clinical), Exome sequencing, Pedigree, Receptors, Lysosphingolipid, Logistic Models, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Hair cell, Lod Score, Lysophospholipids, medicine.symptom, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9c785f41b6ddd44afa92439a7f957fTest
https://doi.org/10.1016/j.ajhg.2015.12.004Test