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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.Clinical Genetics|June 16, 2015
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrumA Haghighi, Z Kavehmanesh, A Haghighi, et al.Journal of Medical Genetics|June 21, 2005
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 geneL Van Maldergem, H A Siitonen, N Jalkh, et al.American Journal of Human Genetics|October 31, 2000
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesisL W Klomp, T J de Koning, H E Malingré, et al.European Journal of Human Genetics : EJHG|July 4, 2001
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the worldA Lund, B Udd, V Juvonen, et al.Human Molecular Genetics|January 1, 1997
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlationsJ Meyer, P Südbeck, M Held, et al.Nature Genetics|August 31, 2001
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1K Grohmann, M Schuelke, A Diers, et al.Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.The Journal of Investigative Dermatology|August 21, 2001
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosisE Sprecher, S Chavanas, J J DiGiovanna, et al.American Journal of Human Genetics|May 20, 1999
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndromeM Bamshad, T Le, W S Watkins, et al.Pageof 10