Human genetics - JoVE Visualize

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Human Genetics|November 9, 2000

Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)R Tonelli, A L Scardovi, A Pession, et al.

Human Genetics|November 9, 2000

Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancerF Krämer, K White, M Kubbies, et al.

Human Genetics|November 9, 2000

Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levelsH Razzaghi, C E Aston, R F Hamman, et al.

Human Genetics|November 9, 2000

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish InquisitionS Gerber, J M Rozet, S I Takezawa, et al.

Human Genetics|October 30, 1999

Beta3-adrenergic receptor Trp64Arg polymorphism does not predict incident CHD or carotid intima-media thickness in a community-based sample of whites: the ARIC study. Atherosclerosis Risk in CommunitiesA C Morrison, F L Brancati, A R Folsom, et al.

Human Genetics|October 30, 1999

Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutationsM J Osborn, M Upadhyaya

Human Genetics|October 30, 1999

Long polymerase chain reaction in detection of germline deletions in the von Hippel-Lindau tumour suppressor geneC Cybulski, K Krzystolik, E R Maher, et al.

Human Genetics|October 13, 2000

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesisM Koptides, C C Deltas

Human Genetics|October 13, 2000

Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21M Guipponi, M L Yaspo, L Riesselman, et al.

Human Genetics|October 13, 2000

Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2)K E Webster, P M Ferree, R P Holmes, et al.

Pageof 959

Showing results (261-270 of 9,586) with videos related to

Sort By:

Pageof 959

Human Genetics|November 9, 2000

Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)R Tonelli, A L Scardovi, A Pession, et al.

Human Genetics|November 9, 2000

Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancerF Krämer, K White, M Kubbies, et al.

Human Genetics|November 9, 2000

Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levelsH Razzaghi, C E Aston, R F Hamman, et al.

Human Genetics|November 9, 2000

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish InquisitionS Gerber, J M Rozet, S I Takezawa, et al.

Human Genetics|October 30, 1999

Beta3-adrenergic receptor Trp64Arg polymorphism does not predict incident CHD or carotid intima-media thickness in a community-based sample of whites: the ARIC study. Atherosclerosis Risk in CommunitiesA C Morrison, F L Brancati, A R Folsom, et al.

Human Genetics|October 30, 1999

Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutationsM J Osborn, M Upadhyaya

Human Genetics|October 30, 1999

Long polymerase chain reaction in detection of germline deletions in the von Hippel-Lindau tumour suppressor geneC Cybulski, K Krzystolik, E R Maher, et al.

Human Genetics|October 13, 2000

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesisM Koptides, C C Deltas

Human Genetics|October 13, 2000

Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21M Guipponi, M L Yaspo, L Riesselman, et al.

Human Genetics|October 13, 2000

Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2)K E Webster, P M Ferree, R P Holmes, et al.

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