المؤلفون: Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N, Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T, Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G, McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M, Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Sacoto, Maria J Guillen, Safina, Nicole P, Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H, Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Shamsi, Aisha Mohamed Al, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J, Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E, Pasquier, Laurent, Küry, Sébastien

المصدر: American Journal of Human Genetics. 102(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Neurosciences, Pediatric, Rare Diseases, Brain Disorders, Autism, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Aged, 80 and over, Alleles, Animals, Autistic Disorder, Brain, Cerebellar Ataxia, Child, Child, Preschool, DNA Copy Number Variations, Disease Models, Animal, Female, Genes, Dominant, Genetic Complementation Test, Humans, Intellectual Disability, Larva, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Nuclear Receptor Subfamily 1, Group F, Member 1, Purkinje Cells, Syndrome, Zebrafish, RORA, autistic features, cerebellar ataxia, dual molecular effects, epilepsy, intellectual disability, neurodevelopmental disorder, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7rq0h7ddTest

المؤلفون: Ehsan Ghayoor Karimiani, Laura E. Kuil, Tjakko J. van Ham, Irene J. Chang, Robert F. Hevner, Reza Maroofian, C. Dirk Keene, Dana M. Jensen, Lee Astle, Caitlin S. Latimer, Herma C. van der Linde, Giridhar M. Shivaram, Nynke Oosterhof, Jeroen Demmers, Erica Young, Emily Loter, Ray A. M. Daza, James T. Bennett

المساهمون: Clinical Genetics, Biochemistry

المصدر: American Journal of Human Genetics, 104(5), 936-947. Cell Press
American Journal of Human Genetics, 936-947. CELL PRESS
STARTPAGE=936;ENDPAGE=947;ISSN=0002-9297;TITLE=American Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Biology, Corpus callosum, Congenital Abnormalities, Leukoencephalopathy, Colony stimulating factor 1 receptor, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Leukoencephalopathies, Report, Genetics, medicine, Animals, Humans, Agenesis of the corpus callosum, Child, Zebrafish, Genetics (clinical), Homeodomain Proteins, Microglia, Corpus Callosum Agenesis, Homozygote, Infant, Newborn, Infant, Receptor Protein-Tyrosine Kinases, Human brain, Protein-Tyrosine Kinases, Zebrafish Proteins, medicine.disease, biology.organism_classification, Cell biology, Pedigree, Repressor Proteins, 030104 developmental biology, medicine.anatomical_structure, Phenotype, nervous system, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Mutation, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b7691d605562e8ec60c91756d238346Test
https://research.rug.nl/en/publications/88cf7183-11a2-4b12-a5cf-8996726812b7Test

المؤلفون: David N, Herrmann, Rita, Horvath, Janet E, Sowden, Michael, Gonzalez, Michael, Gonzales, Avencia, Sanchez-Mejias, Zhuo, Guan, Roger G, Whittaker, Jorge L, Almodovar, Maria, Lane, Boglarka, Bansagi, Angela, Pyle, Veronika, Boczonadi, Hanns, Lochmüller, Helen, Griffin, Patrick F, Chinnery, Thomas E, Lloyd, J Troy, Littleton, Stephan, Zuchner

المساهمون: Massachusetts Institute of Technology. Department of Biology, Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences, Picower Institute for Learning and Memory, Littleton, J. Troy, Guan, Zhuo

المصدر: Prof. Littleton

مصطلحات موضوعية: Male, Pathology, medicine.disease_cause, Synaptic Transmission, Synaptotagmin II, Missense mutation, Medicine, Genetics(clinical), Child, Genetics (clinical), Genes, Dominant, Genetics, Mutation, 0303 health sciences, 030305 genetics & heredity, Peripheral Nervous System Diseases, Middle Aged, Cell biology, 3. Good health, Pedigree, Synaptic vesicle exocytosis, Electrophysiology, Lambert-Eaton Myasthenic Syndrome, medicine.anatomical_structure, Drosophila, Female, Erratum, Lambert-Eaton myasthenic syndrome, Adult, medicine.medical_specialty, endocrine system, Adolescent, Biology, Neurotransmission, Synaptic vesicle, Neuromuscular junction, Synaptotagmin 1, Exocytosis, 03 medical and health sciences, Young Adult, Report, Animals, Humans, Motor Neuron Disease, 030304 developmental biology, Aged, business.industry, medicine.disease, Human genetics, Autosomal dominant form, business, Motor neuropathy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d71e9f753067c3308aba45fc083e3824Test
https://pubmed.ncbi.nlm.nih.gov/25192047Test

المؤلفون: K, Fukai, J, Oh, M A, Karim, K J, Moore, H H, Kandil, H, Ito, J, Bürger, R A, Spritz

المصدر: American journal of human genetics. 59(3)

مصطلحات موضوعية: Adult, Genetic Markers, Male, Homozygote, Intracellular Signaling Peptides and Proteins, Vesicular Transport Proteins, Chromosome Mapping, Proteins, Pedigree, Consanguinity, Mice, Chromosomes, Human, Pair 1, hemic and lymphatic diseases, Animals, Humans, Female, Lod Score, Chediak-Higashi Syndrome, Child, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::0f29b41f317daed67c1b2f2366d690d0Test
https://pubmed.ncbi.nlm.nih.gov/8751863Test