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The Journal of Clinical Endocrinology and Metabolism|October 13, 1998
A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic ricketsM J Econs, N E Friedman, P S Rowe, et al.Human Genetics|January 27, 2017
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotypeNuria C Bramswig, O Caluseriu, H-J Lüdecke, et al.Neurogenetics|August 26, 2006
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromesE Stogmann, P Lichtner, C Baumgartner, et al.Nature Genetics|July 14, 1998
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindnessT M Strom, G Nyakatura, E Apfelstedt-Sylla, et al.Human Genetics|August 13, 2015
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband SyndromesNuria C Bramswig, C W Ockeloen, J C Czeschik, et al.Leukemia|February 23, 2011
Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencingP A Greif, S H Eck, N P Konstandin, et al.Clinical Genetics|June 28, 2017
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type IM C Braunisch, H Gallwitz, A Abicht, et al.The Journal of Clinical Endocrinology and Metabolism|February 7, 2001
The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wastingK E White, K B Jonsson, G Carn, et al.Neurology|March 18, 2009
A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizuresK Schlachter, U Gruber-Sedlmayr, E Stogmann, et al.Nature Genetics|August 31, 2001
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndromeA Zimprich, M Grabowski, F Asmus, et al.Pageof 5