Showing results (1-10 of 8) with videos related to
Sort By:
Pageof 1
Journal of Inherited Metabolic Disease|October 13, 1999
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemiaJ A Ibdah, M J Dasouki, A W StraussClinical Genetics|May 20, 2003
Five new subjects with ring chromosome 22H A Ishmael, D Cataldi, M L Begleiter, et al.American Journal of Medical Genetics|April 29, 1998
Heterogeneity in hereditary pancreatitisM J Dasouki, J Cogan, M L Summar, et al.Pediatric Nephrology (Berlin, Germany)|January 17, 2002
Podocyte proteins in Galloway-Mowat syndromeT Srivastava, J M Whiting, R E Garola, et al.Molecular Genetics and Metabolism|April 18, 2000
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiencyB Z Yang, J H Ding, C Zhou, et al.Cytogenetics and Cell Genetics|January 1, 1995
Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35M L Summar, M J Dasouki, P J Schofield, et al.Genomics|March 24, 1999
Multiple inositol polyphosphate phosphatase: evolution as a distinct group within the histidine phosphatase family and chromosomal localization of the human and mouse genes to chromosomes 10q23 and 19H Chi, G E Tiller, M J Dasouki, et al.Journal of Medical Genetics|April 5, 2005
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutationsM G Butler, M J Dasouki, X-P Zhou, et al.Pageof 1