Latest Articles
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- ArticleAutopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunctionHideaki Nishihara, Masatoshi Omoto, Masaki Takao, et al.July 27, 2017
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- Clinical/Scientific NotesUpdated nomenclature for human and mouse neurofibromatosis type 1 genesCorina Anastasaki, Lu Q. Le, Robert A. Kesterson, et al.July 26, 2017
- ArticleClinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosisLisha Kuang, Marisa Kamelgarn, Alexandra Arenas, et al.July 20, 2017
- ArticlePrevalence of spinocerebellar ataxia 36 in a US populationJuliana M. Valera, Tatyana Diaz, Lauren E. Petty, et al.July 18, 2017
- ArticleUNC5C variants are associated with cerebral amyloid angiopathyHyun-Sik Yang, Charles C. White, Lori B. Chibnik, et al.July 18, 2017
- ArticleFunctionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivoNathan McNeill, Alessia Nasca, Aurelio Reyes, et al.July 14, 2017
- EditorialThis variant alters protein function, but is it pathogenic?Massimo PandolfoJuly 14, 2017
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Dr. Daniel Friedman and Dr. Sharon Chiang