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1دورية أكاديمية
المؤلفون: Willem Bosman, Gijs A. C. Franken, Javier de las Heras, Leire Madariaga, Tahsin Stefan Barakat, Rianne Oostenbrink, Marjon van Slegtenhorst, Ana Perdomo-Ramírez, Félix Claverie-Martín, Albertien M. van Eerde, Rosa Vargas-Poussou, Laurence Derain Dubourg, Irene González-Recio, Luis Alfonso Martínez-Cruz, Jeroen H. F. de Baaij, Joost G. J. Hoenderop
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
مصطلحات موضوعية: CNNM2, Variant characterisation, Genetic hypomagnesaemia, Intellectual disability, Medicine, Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
المؤلفون: Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli
المصدر: Frontiers in Neuroscience, Vol 17 (2023)
مصطلحات موضوعية: SLC6A1, intrafamilial variability, epilepsy, neurodevelopmental disorders, intellectual disability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Benedetta Kassabian, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Møller, Katrine M. Johannesen, Guido Rubboli
المصدر: Frontiers in Neuroscience, Vol 17 (2023)
مصطلحات موضوعية: SLC6A1, intrafamilial variability, epilepsy, neurodevelopmental disorders, intellectual disability, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: Camille Kumps, Heather Paterson, Benoît Funalot, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Robin Clark, Elliott H. Sherr, Marion Gérard, Jasmine L.F. Fung, Emanuela Argilli, Megan E. Rech, Antonio Vitobello, Christian Netzer, Christian P. Schaaf, Coranne D. Aarts-Tesselaar, Angela Abicht, Lennart Lessmeier, Brian H.Y. Chung, Anne-Sophie Denommé-Pichon, Jason Carmichael, Frédéric Tran Mau-Them, Andrea Superti-Furga, Marion Aubert Mucca, Marcus Cy Chan, Nicolas Chassaing, Christine Coubes, Anne H. O’Donnell-Luria, Lynn Pais, Colleen Kennedy, Daphné Lehalle, Maries Joseph, Kathleen A. Leppig, Florian Erger, John Karl de Dios, Lance H. Rodan, Marjolaine Willems, Subhadra Ramanathan, Clara Velmans, Eleina M. England
المساهمون: Clinical Genetics
المصدر: Journal of Medical Genetics, 59(7), 697-705. BMJ Publishing Group
Journal of medical genetics, vol 59, iss 7
J Med Genetمصطلحات موضوعية: 0301 basic medicine, Pediatrics, Autism Spectrum Disorder, behavioural, Autism, Medical and Health Sciences, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, 2.1 Biological and endogenous factors, Aetiology, Child, Exome, Genetics (clinical), Pediatric, Genetics & Heredity, Syndrome, Biological Sciences, Mental Health, Autism spectrum disorder, Cohort, medicine.symptom, medicine.medical_specialty, Genetic counseling, Intellectual and Developmental Disabilities (IDD), human genetics, Article, 03 medical and health sciences, Seizures, Clinical Research, Intellectual Disability, Exome Sequencing, medicine, Genetics, Humans, business.industry, Human Genome, Macrocephaly, Neurosciences, medicine.disease, Human genetics, Megalencephaly, Brain Disorders, 030104 developmental biology, Neurodevelopmental Disorders, Congenital Structural Anomalies, mutation, business, 030217 neurology & neurosurgery, genetic counselling
وصف الملف: application/pdf
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المؤلفون: Marcello Scala, Nathalie Drouot, Suzanna C. MacLennan, Marja W. Wessels, Magdalena Krygier, Lisa Pavinato, Aida Telegrafi, Stella A. de Man, Marjon van Slegtenhorst, Michele Iacomino, Francesca Madia, Paolo Scudieri, Paolo Uva, Thea Giacomini, Giulia Nobile, Maria Margherita Mancardi, Ganna Balagura, Giovanni Battista Galloni, Alberto Verrotti, Muhammad Umair, Amjad Khan, Jan Liebelt, Miriam Schmidts, Thorsten Langer, Alfredo Brusco, Beata S. Lipska‐Ziętkiewicz, Jasper J. Saris, Nicolas Charlet‐Berguerand, Federico Zara, Pasquale Striano, Amélie Piton
المساهمون: Clinical Genetics
المصدر: Human Mutation, 43(9), 1299-1313. Wiley-Liss Inc.
مصطلحات موضوعية: NOVA2, RNA-Binding Proteins, Nerve Tissue Proteins, neurodevelopmental disorder, alternative splicing, myoclonic seizures, psychomotor regression, truncating variants, Alternative Splicing, HeLa Cells, Humans, Muscle Hypotonia, Neuro-Oncological Ventral Antigen, Phenotype, Intellectual Disability, Neurodevelopmental Disorders, Genetics, Genetics (clinical)
وصف الملف: application/pdf
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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/s41436-021-01246-2
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/s41436-021-01246-2مصطلحات 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
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المؤلفون: Ana Berta Sousa, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas J. Hand, Kosuke Izumi, Paula Jorge, Andrew C. Edmondson, Elisa De Franco, Linlea Armstrong, Michael E. March, Dirk Lefeber, Hans van Bokhoven, Miao He, Sian Ellard, Marina P Hommersom, Serwet Demirdas, Elaine H. Zackai, Fleur S van Dijk, Anna Lehman, Avni Santani, Daniel L. Polla, Daniel J. Rader, Arjan P.M. de Brouwer, Sandrine Duvet, Xin Bi, Sophie C. Huffels, Dmitriy Niyazov, Céline Schulz
المساهمون: Clinical Genetics, Repositório da Universidade de Lisboa
المصدر: American Journal of Human Genetics, 108(7), 1342-1349. Cell Press
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 108, 7, pp. 1342-1349
American Journal of Human Genetics, 108, 1342-1349
Am J Hum Genetمصطلحات موضوعية: Male, Glycosylation, Mouse, Developmental Disabilities, Endoplasmic Reticulum, Compound heterozygosity, chemistry.chemical_compound, Congenital Disorders of Glycosylation, 0302 clinical medicine, EIF2AK3, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, Tunicamycin, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pedigree, Mannosidase, Child, Preschool, N-glycan, Female, Adolescent, Biology, Cell Line, 03 medical and health sciences, Polysaccharides, alpha-Mannosidase, Intellectual Disability, Report, Genetics, medicine, Humans, Proteostasis Deficiencies, Gene, Alleles, Glycoproteins, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Endoplasmic reticulum, Calcium-Binding Proteins, Infant, medicine.disease, Molecular biology, carbohydrates (lipids), Dysmorphism, chemistry, Mutation, Unfolded protein response, High-mannose, CDG, EDEM3, Congenital disorder of glycosylation, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9de7e535ef91859e8db4ea8ac1e4f021
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المؤلفون: Mari Rossi, Melissa K. Gabriel, Rolph Pfundt, Ange Line Bruel, Sonal Mahida, Daniel Groepper, Kristin W. Barañano, Tjitske Kleefstra, Saskia Brulleman, Charlotte de Konink, Angelika Erwin, Aida Telegrafi, Kristin Lindstrom, Amy Blevins, Marjon van Slegtenhorst, Katherine G. Langley, David A. Koolen, Geeske M. van Woerden, Anna Chassevent, Louisa Kalsner, A. Micheil Innes, Ype Elgersma, David R. FitzPatrick, Kristin G. Monaghan, Allison Goodwin, Ben Distel, Karen W. Gripp, Alice S. Brooks, Natasha Shur, Fatima Rehman, Rossella Avagliano Trezza, Amanda Noyes, Melanie Bos, Jane Juusola, Gwynna de Geus, Jennifer B. Humberson, Andrew O.M. Wilkie, Jessica Hoffman, Marleen Simon, David Johnson, Róisín McCormack, Sumit Punj, Maria J. Guillen Sacoto, Julie Fleischer, Eduardo Calpena, Arthur Sorlin, Allison Schreiber
المساهمون: Clinical Genetics, Neurosciences, Medical Biochemistry, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Human Mutation, 42(4), 445-459. Wiley-Liss Inc.
Human Mutation, 42, 445-459
Human Mutation, 42, 4, pp. 445-459
Human Mutation
Human mutation, 42(4), 445-459. Wiley-Liss Inc.مصطلحات موضوعية: MAP Kinase Signaling System, Biology, Mice, 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Intellectual disability, Genetics, medicine, Animals, Humans, Missense mutation, cortical development, Amino Acids, Protein kinase A, Research Articles, Genetics (clinical), Loss function, 030304 developmental biology, 2. Zero hunger, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MAP kinase kinase kinase, Muscular hypotonia, neurodevelopmental disorders, 030305 genetics & heredity, medicine.disease, in utero electroporation, TAOK1, Muscle Hypotonia, Neuroscience, functional genomics, Function (biology), Research Article
وصف الملف: application/pdf
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المؤلفون: Jessica Becker, Julia Bay, Deepa Ajit, Sheryl S. Moy, Katja Kloth, Michael T. Zimmermann, Pilar Cacheiro, Ingrid M.B.H. van de Laar, Richard H. van Jaarsveld, Queenie K-G Tan, Adriana S. Beltran, Allyn McConkie-Rosell, Keith A. Breau, Laura Schultz-Rogers, Deike Weiss, Damaris N Lorenzo, Marie T. McDonald, Robert Jech, Paul R. Mark, Erin Torti, Richard E. Person, Benjamin Cogné, Renske Oegema, Eva H. Brilstra, Robert Stratton, Koen L.I. van Gassen, Reginald James Edwards, Rebecca C. Spillmann, Michael C. Stankewich, Amy Kritzer, Liset Falcon Rodriguez, Parul Jayakar, Joseph T. Shieh, Margot A. Cousin, Elizabeth A. Normand, Jennifer L. Kemppainen, Jennifer MacKenzie, Hartmut Engels, Marjon van Slegtenhorst, Evangeline Kurtz-Nelson, Tianyun Wang, Yue Si, Damian Smedley, Bertrand Isidor, Blake A Creighton, Vimla Aggarwal, Michael Zech, Alvaro A. Beltran, Stefan Aretz, Brenda Temple, Simone Afriyie, Sarah E McKeown, Louise Bier, Tatjana Bierhals, Grace Yoon, Juliane Winkelmann, Swarnendu Tripathi, Brendan C. Lanpher, Amy Blevins, Pavel N. Pichurin, Eric W. Klee, Kathryn M. Harper, Cecilia Fairley, Lauren Gunderson, Ingo Helbig, Sruthi Dontu, Kirsten Cremer, Raphael Bernier, Helen V. Firth, Gretchen Parsons, Lorena J. Munoz, Evan E. Eichler, Alison S May, Grazia M.S. Mancini
المساهمون: Clinical Genetics
المصدر: Nature Genetics, 53(7), 1006-1021. Nature Publishing Group
Nature genetics
Nat. Genet. 53, 1006-1021 (2021)مصطلحات موضوعية: Heterozygote, Cytoskeleton organization, macromolecular substances, Biology, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Intellectual disability, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Genetic Association Studies, 030304 developmental biology, Genes, Dominant, 0303 health sciences, Genetic Variation, Spectrin, Heterozygote advantage, medicine.disease, Phenotype, Hypotonia, Neurodevelopmental Disorders, Autism, medicine.symptom, Haploinsufficiency, Neuroscience, Neural development, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Stéphane Bézieau, Médéric Jeanne, Anne Sophie Denommé-Pichon, Jason Laufman, William B. Dobyns, Sébastien Küry, Judith Halewa, Elliott H. Sherr, Dominique Bonneau, Julie Vogt, Sophie Blesson, Hélène Demory, Jérôme Honnorat, Helene Cox, Séverine Audebert-Bellanger, Marie Laure Vuillaume, Sylviane Marouillat, Estelle Colin, Avgi Andreou, Emanuela Argilli, Bertrand Isidor, Bernhard Lohkamp, Miroslava Hancarova, Rajesh Khanna, Davit Babikyan, Sarka Bendova, Kimberly A. Aldinger, Aubin Moutal, Saskia M. Maas, Marjon van Slegtenhorst, Annick Toutain, Sylvie Odent, Rose Anne Thépault, Natella Kostandyan, Eleina M. England, Zdenek Sedlacek, Richard Redon, M. Mahdi Motazacker, Frédéric Laumonnier, Brigitte Gilbert-Dussardier, Grazia M.S. Mancini
المساهمون: Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University of Arizona, Amsterdam UMC - Amsterdam University Medical Center, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Birmingham Women's and Children's NHS Foundation Trust, University of Akron, Yerevan State Medical University after Mkhitar Heratsi, Charles University [Prague] (CU), Center for Integrative Brain Research, University of Washington [Seattle], University of California [Los Angeles] (UCLA), University of California (UC), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Karolinska Institutet [Stockholm], National Human Genome Research Institute, Ministry of Health of the Czech Republic, DGOS, Wellcome Trust, Chard-Hutchinson, Xavier, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Amsterdam UMC, University of California, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinical Genetics, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Human Genetics, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ACS - Pulmonary hypertension & thrombosis
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, 108(5), 951-961. Cell Press
American journal of human genetics, vol 108, iss 5
Am J Hum Genet
American journal of human genetics, 108(5), 951-961. Cell Pressمصطلحات موضوعية: Models, Molecular, Male, 0301 basic medicine, Hydrolases, [SDV]Life Sciences [q-bio], Hippocampal formation, Medical and Health Sciences, 0302 clinical medicine, Neurodevelopmental disorder, Tubulin, Models, Neurotrophic factors, Cerebellum, Intellectual disability, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Child, dendrite branching, Genetics (clinical), de novo missense variants, Pediatric, Genetics & Heredity, DPYSL5, Biological Sciences, [SDV] Life Sciences [q-bio], corpus callosum agenesis, Mental Health, Child, Preschool, Neurological, Female, Microtubule-Associated Proteins, Adult, Neurite, Intellectual and Developmental Disabilities (IDD), primary neuronal cultures, Mutation, Missense, Biology, Young Adult, 03 medical and health sciences, Rare Diseases, Mediator, Report, Intellectual Disability, Genetics, medicine, Humans, Preschool, Corpus Callosum Agenesis, brain malformation, Neurosciences, Molecular, medicine.disease, neurodevelopmental disorder, Brain Disorders, 030104 developmental biology, Neurodevelopmental Disorders, Mutation, Missense, Agenesis of Corpus Callosum, Neuroscience, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e66e0d64a2aebf8eb64fc4124a065ea
https://hal.science/hal-03221134