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1دورية أكاديمية
المؤلفون: Salpietro, Vincenzo, Deforie, Valentina Galassi, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M, Group, SYNAPS Study, Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, PY Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, Männikkö, Roope
المصدر: Epilepsia. 64(2)
مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Pediatric, Neurodegenerative, Genetics, Biotechnology, Brain Disorders, Epilepsy, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Mutation, Neurodevelopmental Disorders, Seizures, Kv1.6 Potassium Channel, K(V)1 Shaker channel family, neurodevelopmental disorder, voltage-gated potassium channels, whole exome sequencing, SYNAPS Study Group, KV1 Shaker channel family, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0q22f2xmTest
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2دورية أكاديمية
المؤلفون: Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Parra, Karen Vargas, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Group, SYNaPS Study, Genomics, University of Washington Center for Mendelian, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M, Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee
المصدر: American Journal of Human Genetics. 108(12)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Neurosciences, Neurodegenerative, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Alleles, Animals, Ataxia, Cells, Cultured, Child, Cohort Studies, DNA Mutational Analysis, Drosophila melanogaster, Epilepsy, Family Health, Female, Fibroblasts, Hearing Loss, Humans, Ketoglutarate Dehydrogenase Complex, Male, Mutation, Neurodevelopmental Disorders, RNA Splicing, Vision Disorders, SYNaPS Study Group, University of Washington Center for Mendelian Genomics, CRISPR-Cas9 gene editing, DEE, Drosophila, OGDHL, bi-allelic, developmental and epileptic encephalopathy, exome sequencing, mitochondria, neurodevelopmental disease, α-ketoglutarate, 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/6480d7ncTest