Latest Articles
- Clinical/Scientific Notes“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathiesMarta Romani, Cybel Mehawej, Tommaso Mazza, et al.March 03, 2016
- ArticleHomozygous deletion in MICU1 presenting with fatigue and lethargy in childhoodDavid Lewis-Smith, Kimberli J. Kamer, Helen Griffin, et al.March 03, 2016
- ArticleLong-term follow-up and sudden unexpected death in Gaucher disease type 3 in EgyptMagy Abdelwahab, Derek Blankenship, Raphael SchiffmannFebruary 25, 2016
- ArticleStabilization of the thermolabile variant S113L of carnitine palmitoyltransferase IILeila Motlagh, Ralph Golbik, Wolfgang Sippl, et al.February 25, 2016
- Clinical/Scientific NotesExonic deletion of SLC9A9 in autism with epilepsyMeeta Cardon, Karen D. Evankovich, J. Lloyd HolderFebruary 25, 2016
- ArticleX-inactivation in the clinical phenotype of fragile X premutation carrier sistersDeborah A. Hall, Erin E. Robertson-Dick, Joan A. O'Keefe, et al.February 03, 2016
- ArticleTubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1Hidehiko Okuma, Fumiaki Saito, Jun Mitsui, et al.February 01, 2016
- Clinical/Scientific NotesWhite matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutationsFatima Ameur, Olivier Colliot, Paola Caroppo, et al.January 28, 2016
- ArticleDysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsyMikko Muona, Yuko Fukata, Anna-Kaisa Anttonen, et al.January 21, 2016
Pages
Advertisement
Dr. Daniel Friedman and Dr. Sharon Chiang