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Bi-allelic variants in OGDHL cause a neurodevelopmental spe..:
Yap, Zheng Yie
;
Efthymiou, Stephanie
;
Seiffert, Simone
...
qt6480d7nc. , 2021
Link:
https://escholarship.org/uc/item/6480d7nc
RT Journal T1
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt6480d7nc&Exemplar=1&LAN=DE A1 Yap, Zheng Yie A1 Efthymiou, Stephanie A1 Seiffert, Simone A1 Parra, Karen Vargas A1 Lee, Sukyeong A1 Nasca, Alessia A1 Maroofian, Reza A1 Schrauwen, Isabelle A1 Pendziwiat, Manuela A1 Jung, Sunhee A1 Bhoj, Elizabeth A1 Striano, Pasquale A1 Mankad, Kshitij A1 Vona, Barbara A1 Cuddapah, Sanmati A1 Wagner, Anja A1 Alvi, Javeria Raza A1 Davoudi-Dehaghani, Elham A1 Fallah, Mohammad-Sadegh A1 Gannavarapu, Srinitya A1 Lamperti, Costanza A1 Legati, Andrea A1 Murtaza, Bibi Nazia A1 Nadeem, Muhammad Shahid A1 Rehman, Mujaddad Ur A1 Saeidi, Kolsoum A1 Salpietro, Vincenzo A1 von Spiczak, Sarah A1 Sandoval, Abigail A1 Zeinali, Sirous A1 Zeviani, Massimo A1 Reich, Adi A1 Group, SYNaPS Study A1 Genomics, University of Washington Center for Mendelian A1 Jang, Cholsoon A1 Helbig, Ingo A1 Barakat, Tahsin Stefan A1 Ghezzi, Daniele A1 Leal, Suzanne M A1 Weber, Yvonne A1 Houlden, Henry A1 Yoon, Wan Hee PB eScholarship, University of California YR 2021 K1 Biological Sciences K1 Bioinformatics and Computational Biology K1 Biomedical and Clinical Sciences K1 Genetics K1 Clinical Research K1 Brain Disorders K1 Neurosciences K1 Neurodegenerative K1 Rare Diseases K1 Aetiology K1 2.1 Biological and endogenous factors K1 Neurological K1 Alleles K1 Animals K1 Ataxia K1 Cells K1 Cultured K1 Child K1 Cohort Studies K1 DNA Mutational Analysis K1 Drosophila melanogaster K1 Epilepsy K1 Family Health K1 Female K1 Fibroblasts K1 Hearing Loss K1 Humans K1 Ketoglutarate Dehydrogenase Complex K1 Male K1 Mutation K1 Neurodevelopmental Disorders K1 RNA Splicing K1 Vision Disorders K1 SYNaPS Study Group K1 University of Washington Center for Mendelian Genomics K1 CRISPR-Cas9 gene editing K1 DEE K1 Drosophila K1 OGDHL K1 bi-allelic K1 developmental and epileptic encephalopathy K1 exome sequencing K1 mitochondria K1 neurodevelopmental disease K1 α-ketoglutarate K1 Medical and Health Sciences K1 Genetics & Heredity K1 Health sciences JF qt6480d7nc LK http://dx.doi.org/https://escholarship.org/uc/item/6480d7nc DO https://escholarship.org/uc/item/6480d7nc SF ELIB - SuUB Bremen
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