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Clinical Genetics|May 1, 2008
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndromeJ Wincent, E Holmberg, K Strömland, et al.Human Molecular Genetics|November 1, 1995
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosisA Fuchshuber, G Jean, O Gribouval, et al.Journal of Medical Genetics|November 1, 1993
Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish populationB Peral, J L San Millán, C Hernández, et al.The Journal of Biological Chemistry|June 27, 1998
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2AY Ono, H Shimada, H Sorimachi, et al.Human Molecular Genetics|February 9, 1999
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21M Mustapha, D Weil, S Chardenoux, et al.Scientific Reports|March 25, 2016
The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangementAnders Valind, C Haikal, M E K Klasson, et al.Diabetologia|July 18, 2009
JNK3 is abundant in insulin-secreting cells and protects against cytokine-induced apoptosisS Abdelli, J Puyal, C Bielmann, et al.Human Molecular Genetics|December 1, 1993
A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellitesJ S Beckmann, J Tomfohrde, R I Barnes, et al.Genomics|April 2, 1998
Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human developmentF Fougerousse, M Durand, L Suel, et al.Molecular and Cellular Endocrinology|October 19, 2004
Circadian regulation of islet genes involved in insulin production and secretionN Allaman-Pillet, R Roduit, A Oberson, et al.Pageof 22