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Human Mutation|October 6, 2009
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHDChristopher J Ricketts, Julia R Forman, Eleanor Rattenberry, et al.Human Mutation|February 5, 2009
Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulumJulie Deuquet, Laurence Abrami, Analisa Difeo, et al.Human Mutation|February 5, 2009
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsyCarlo Nobile, Roberto Michelucci, Simonetta Andreazza, et al.Human Mutation|February 5, 2009
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and diseaseMarianne Abifadel, Jean-Pierre Rabès, Martine Devillers, et al.Human Mutation|February 5, 2009
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemiaRadek Cmejla, Jana Cmejlova, Helena Handrkova, et al.Human Mutation|February 5, 2009
Increasing the number of diagnostic mutations in malignant hyperthermiaSoledad Levano, Mirko Vukcevic, Martine Singer, et al.Human Mutation|February 5, 2009
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytesAlberto Zullo, Werner Klingler, Claudia De Sarno, et al.Human Mutation|April 17, 2009
Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 proteinKatrin Voss, Sonja Stahl, Benjamin M Hogan, et al.Human Mutation|April 17, 2009
Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profilingSteven F Dobrowolski, Alexandra T M Hendrickx, Bianca J C van den Bosch, et al.Human Mutation|April 17, 2009
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS)Anna L Mitchell, Ulrike Schwarze, Jessica F Jennings, et al.Pageof 574