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Human Genetics|July 1, 1992
Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disordersB Schmid, B C Paton, K Sandhoff, et al.Human Genetics|July 1, 1992
Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6pL Izquierdo, M Porteous, P G Paramo, et al.Human Genetics|July 1, 1992
The interleukin-7 receptor gene is at 5p13M Lynch, E Baker, L S Park, et al.Human Genetics|July 1, 1992
Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese populationP Faustino, L Osório-Almeida, J Barbot, et al.Human Genetics|November 29, 2005
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephalyMasoud Garshasbi, Mohammad Mahdi Motazacker, Kimia Kahrizi, et al.Human Genetics|December 1, 2005
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skippingPia Pinholt Madsen, Maria Kibaek, Xavier Roca, et al.Human Genetics|July 1, 1997
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypesR Hirschhorn, W Borkowsky, C K Jiang, et al.Human Genetics|July 1, 1997
Association of polymorphism at COL3A and CTLA4 loci on chromosome 2q31-33 with the clinical phenotype and in-vitro CMI status in healthy and leprosy subjects: a preliminary studyG Kaur, G Sachdeva, L K Bhutani, et al.Human Genetics|July 1, 1997
Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysisF Petry, A I Berkel, M LoosHuman Genetics|July 1, 1997
Identification of novel 'expressed sequence tags' within the FHIT gene locus in human chromosome region 3p14.2A Lux, W Bardenheuer, D Michael, et al.Pageof 958