المؤلفون: Thuy Anh Vu, Sally Ackermann, Andrew E. Fry, Seok Kyu Kang, Shelagh Joss, Katrien Stouffs, Satoko Miyatake, Katherine A. Fawcett, Ethan M. Goldberg, Elena Parrini, Natalie Hauser, Anna E. Jansen, Daniela T. Pilz, Daphna Marom, Adeline Jacquinet, Katherine L. Helbig, Yuh Fujiwara, Natalie Lippa, Orit Reish, Ingo Helbig, Bruria Ben-Zeev, Shraddha Srinivasan, Pradeep Vasudevan, Renzo Guerrini, Careni Spencer, Lieve Verstraete, Agnieszka Charzewska, Christopher H. Thompson, Jérôme Clatot, Jennifer A. Kearney, David R. FitzPatrick, Haim Bassan, Victoria Harrison, Naomichi Matsumoto, Tariq Zaman, Dorota Hoffman-Zacharska

المساهمون: Clinical sciences, Medical Genetics, Reproduction and Genetics, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics

المصدر: Ann Neurol

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Biology, Sodium Channels, Article, 03 medical and health sciences, Epilepsy, SCN3A, 0302 clinical medicine, Neurodevelopmental disorder, Fetus, Channelopathy, Intellectual disability, medicine, NAV1.3 Voltage-Gated Sodium Channel, Missense mutation, Humans, Child, Sodium channel, Brain, Genetic Variation, Infant, medicine.disease, Electrophysiology, 030104 developmental biology, HEK293 Cells, Neurology, Neurodevelopmental Disorders, Child, Preschool, Female, Neurology (clinical), Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::700d035773de953f5d73c7bf4583cbc9Test
https://orca.cardiff.ac.uk/id/eprint/132507/1/Zaman+et+al+2020+FINAL+Main+Document.pdfTest

المؤلفون: Simon G. Williams, Stavit A. Shalev, Neil A. Roberts, James O'Sullivan, Sanjeev S. Bhaskar, Daniela T. Pilz, Morad Khayat, Jill E. Urquhart, Andrew E. Fry, Glenda M. Beaman, William G. Newman, Elena Chervinsky, I.B. Shachar, N. Simanovsky, H. Byers

المصدر: Clinical Genetics. 89:724-727

مصطلحات موضوعية: 0301 basic medicine, Genetics, Microcephaly, Pachygyria, Doublesex, Lissencephaly, Biology, medicine.disease, Frameshift mutation, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurodevelopmental disorder, medicine, Agenesis of the corpus callosum, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0600e697f4d58f64cd108bd6fa86b03aTest
https://doi.org/10.1111/cge.12734Test

المؤلفون: Daniela T. Pilz, Thomas D. Cushion, Andrew E. Fry

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 166:198-210

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Brain development, business.industry, Genetic counseling, Pachygyria, Lissencephaly, macromolecular substances, medicine.disease, Phenotype, PAFAH1B1, medicine.anatomical_structure, Cerebral cortex, Genetics, medicine, In patient, business, Neuroscience, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7a3526e3d6bd8f89476ff11daf15185fTest
https://doi.org/10.1002/ajmg.c.31402Test

المؤلفون: B Minns, David FitzPatrick, Daniela T. Pilz, W T Keng

المصدر: Developmental Medicine & Child Neurology. 45:704-708

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Adolescent, Encephalopathy, Gene Expression, Biology, MELAS syndrome, DNA, Mitochondrial, Developmental Neuroscience, MELAS Syndrome, Polymicrogyria, medicine, Humans, Point Mutation, Child, Myopathy, Transition (genetics), Point mutation, Brain, Calcinosis, medicine.disease, Neuroepithelial cell, Diffusion Magnetic Resonance Imaging, Phenotype, Lactic acidosis, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edecd6287962b7114c552725d2895907Test
https://doi.org/10.1111/j.1469-8749.2003.tb00874.xTest

المؤلفون: Donna M. McDonald-McGinn, Clare Taylor, Peter M. Bingham, Marie T. McDonald, Jean-Pierre Lin, Renzo Guerrini, Cathy A. Stevens, Neil Stoodley, Daniela T. Pilz, R. Curtis Rogers, David A. Lynch, Roger F. Massey, Marc D. Tischkowitz, Deepak Gill, Richard J. Leventer, Shehla Mohammed, Elaine H. Zackai, Nathaniel H. Robin, William B. Dobyns, Kevin Collins, Naomi T Katz, Miranda Splitt, Virginia Kimonis, Dawn L. Earl, Tiziana Granata

المصدر: American Journal of Medical Genetics Part A. :2416-2425

مصطلحات موضوعية: Male, Cerebellum, Pathology, medicine.medical_specialty, Velopharyngeal Insufficiency, Chromosomes, Human, Pair 22, Biology, Genetics, medicine, Polymicrogyria, Humans, Agenesis of the corpus callosum, Cerebellar hypoplasia, Genetics (clinical), Cerebral Cortex, Pachygyria, Sequela, Syndrome, medicine.disease, Perisylvian polymicrogyria, Magnetic Resonance Imaging, Hypoplasia, medicine.anatomical_structure, Female, Chromosome Deletion, Tomography, X-Ray Computed

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7992a81c88f57aafc46e4c84bd995532Test
https://doi.org/10.1002/ajmg.a.31443Test

المؤلفون: Alison Kerr, Sharon D. Whatley, Julian R. Sampson, Helen Leonard, David S. Millar, Christopher Verity, Lucy Grove, David Ravine, L. P. Lazarou, P. W. Thompson, Daniela T. Pilz, John Christodoulou, Hayley Archer, Angus John Clarke, Julie Evans

المصدر: American Journal of Medical Genetics Part A. :691-694

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Receptor expression, DNA Mutational Analysis, CDKL5, NTNG1 Gene, Nerve Tissue Proteins, Rett syndrome, Biology, GPI-Linked Proteins, medicine.disease_cause, Bioinformatics, Article, MECP2, Gene Frequency, Rett Syndrome, Genetics, medicine, Humans, Genetics (clinical), Glycoproteins, Mutation, medicine.disease, Female, Netrins, Epileptic seizure, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddb1dde86a4cdd394b58cdba1a37602bTest
https://doi.org/10.1002/ajmg.a.31133Test

المؤلفون: David H. Ledbetter, I. Chua, S. Enoch, P. W. Thompson, Christa Lese-Martin, A. Rowbottom, P. Williams, S. Gupta, Daniela T. Pilz, Hayley Archer, David P. Johnson, S. Warren

المصدر: American Journal of Medical Genetics Part A. :38-44

مصطلحات موضوعية: Heart Defects, Congenital, Male, Candidate gene, Adolescent, Heart malformation, Biology, medicine.disease_cause, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Hearing Loss, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), Learning Disabilities, Telomere, Immune dysregulation, Subtelomere, Phenotype, Cleft Palate, Face, Immune System, Keloid, Chromosomal region, Chromosome Deletion, Chromosomes, Human, Pair 19

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d851756a05b17556407a8d518fbf83eTest
https://doi.org/10.1002/ajmg.a.30774Test

المؤلفون: Andrea Ballabio, Francesca Moro, M. O. Livet, Renzo Guerrini, Daniela T. Pilz, Pierangelo Veggiotti, Emilio Fernandez-Alvarez, Alessandra Renieri, Antonella Fogli, Elena Rossi, Maddalena Cioni, Romeo Carrozzo

المصدر: Annals of Neurology. 45:154-161

مصطلحات موضوعية: Genetics, Mutation, medicine.diagnostic_test, Lissencephaly, Biology, medicine.disease, medicine.disease_cause, Molecular biology, Exon, Neurology, Western blot, RNA splicing, medicine, Neurology (clinical), Allele, Gene, Intracellular

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8372ee8f33fcfbf9d2fb87c629238313Test
https://doi.org/10.1002/1531-8249Test(199902)45:2<154::aid-ana4>3.0.co;2-p

المؤلفون: Bruce Castle, Clare J. Hill, T.H.C. Williams, P.S. Harper, Daniela T. Pilz

المصدر: American Journal of Medical Genetics Part A. :57-59

مصطلحات موضوعية: ANOPHTHALMIA-ESOPHAGEAL-GENITAL SYNDROME, Genetics, Pathology, medicine.medical_specialty, business.industry, Eye disease, Tracheoesophageal fistula, medicine.disease, Phenotype, medicine.anatomical_structure, Anophthalmos, medicine, Congenital disease, Esophagus, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ea9a5d38c7979b293adfa5da8bcee485Test
https://doi.org/10.1002/ajmg.a.30282Test