Showing results (41-50 of 51) with videos related to
Sort By:
Pageof 6
European Journal of Pediatrics|February 14, 1998
Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletionM Adachi, K Tachibana, M Masuno, et al.Journal of Human Genetics|February 4, 1999
Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patientsA Nakamura, S Matsuura, H Tauchi, et al.Clinical Genetics|October 1, 1996
Life-threatening cardiac involvement throughout life in a case of Costello syndromeT Fukao, S Sakai, N Shimozawa, et al.Human Mutation|January 1, 1997
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal alleleK Sukegawa, X Q Song, M Masuno, et al.Human Molecular Genetics|May 2, 2001
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndromeT Murata, R Kurokawa, A Krones, et al.American Journal of Medical Genetics|July 16, 1999
Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocationS Goobie, J Morrison, H Ginzberg, et al.American Journal of Human Genetics|December 1, 1996
Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humansS Fukuda, N Shimozawa, Y Suzuki, et al.Nature|July 27, 1995
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBPF Petrij, R H Giles, H G Dauwerse, et al.Human Mutation|January 1, 1996
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio diseaseS Fukuda, S Tomatsu, M Masuno, et al.Clinical Genetics|August 18, 1999
Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate geneS Ikegawa, M Masuno, Y Kumano, et al.Pageof 6