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A diagnostic ceiling for exome sequencing in cerebellar ata..:
Ngo, Kathie J
;
Rexach, Jessica E
;
Lee, Hane
...
qt0t0122d6. , 2020
Link:
https://escholarship.org/uc/item/0t0122d6
RT Journal T1
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt0t0122d6&Exemplar=1&LAN=DE A1 Ngo, Kathie J A1 Rexach, Jessica E A1 Lee, Hane A1 Petty, Lauren E A1 Perlman, Susan A1 Valera, Juliana M A1 Deignan, Joshua L A1 Mao, Yuanming A1 Aker, Mamdouh A1 Posey, Jennifer E A1 Jhangiani, Shalini N A1 Coban‐Akdemir, Zeynep H A1 Boerwinkle, Eric A1 Muzny, Donna A1 Nelson, Alexandra B A1 Hassin‐Baer, Sharon A1 Poke, Gemma A1 Neas, Katherine A1 Geschwind, Michael D A1 Grody, Wayne W A1 Gibbs, Richard A1 Geschwind, Daniel H A1 Lupski, James R A1 Below, Jennifer E A1 Nelson, Stanley F A1 Fogel, Brent L PB eScholarship, University of California YR 2020 K1 Biological Sciences K1 Biomedical and Clinical Sciences K1 Genetics K1 Brain Disorders K1 Human Genome K1 Neurosciences K1 4.1 Discovery and preclinical testing of markers and technologies K1 Detection K1 screening and diagnosis K1 Neurological K1 Cerebellar Ataxia K1 DNA Copy Number Variations K1 Exome K1 Genetic Association Studies K1 Genetic Linkage K1 Genetic Predisposition to Disease K1 Humans K1 Microsatellite Repeats K1 Nervous System Diseases K1 Exome Sequencing K1 ataxia K1 cerebellum K1 diagnostic testing K1 gait disorders K1 genomics K1 neurogenetics K1 spastic paraparesis K1 spastic paraplegia K1 spinocerebellar ataxia K1 Clinical Sciences K1 Genetics & Heredity JF qt0t0122d6 LK http://dx.doi.org/https://escholarship.org/uc/item/0t0122d6 DO https://escholarship.org/uc/item/0t0122d6 SF ELIB - SuUB Bremen
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