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Human genetics

Showing results (41-50 of 11,257) with videos related to

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Human Genetics|July 29, 2000
The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody diseaseA Odermatt, K Barton, V K Khanna, et al.
Human Genetics|July 29, 2000
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataractZ Ren, A Li, B S Shastry, et al.
Human Genetics|July 29, 2000
Multi-allelic origin of congenital disorder of glycosylation (CDG)-IcT Imbach, S Grünewald, B Schenk, et al.
Human Genetics|July 29, 2000
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13M J Kelley, W Jawien, A Lin, et al.
Human Genetics|July 29, 2000
Analysis of genetic polymorphisms in the transforming growth factor-beta1 gene and the risk of Alzheimer's diseaseE K Luedecking, S T DeKosky, H Mehdi, et al.
Human Genetics|January 26, 2002
Mutation spectrum and splicing variants in the OPA1 geneC Delettre, J M Griffoin, J Kaplan, et al.
Human Genetics|January 26, 2002
A full-length and potentially active LINE element is integrated polymorphically within the IGL locus in a genomically unstable region of chromosome 22S M Benjes, C M Morris
Human Genetics|January 26, 2002
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndromeD Kelberman, J Tyson, D C Chandler, et al.
Human Genetics|January 26, 2002
Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's diseaseR Abraham, A Myers, F Wavrant-DeVrieze, et al.
Human Genetics|January 26, 2002
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann diseaseB Campos-Xavier, J M Saraiva, R Savarirayan, et al.
Pageof 1,126

Showing results (41-50 of 11,257) with videos related to

Sort By:
Pageof 1,126
Human Genetics|July 29, 2000
The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody diseaseA Odermatt, K Barton, V K Khanna, et al.
Human Genetics|July 29, 2000
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataractZ Ren, A Li, B S Shastry, et al.
Human Genetics|July 29, 2000
Multi-allelic origin of congenital disorder of glycosylation (CDG)-IcT Imbach, S Grünewald, B Schenk, et al.
Human Genetics|July 29, 2000
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13M J Kelley, W Jawien, A Lin, et al.
Human Genetics|July 29, 2000
Analysis of genetic polymorphisms in the transforming growth factor-beta1 gene and the risk of Alzheimer's diseaseE K Luedecking, S T DeKosky, H Mehdi, et al.
Human Genetics|January 26, 2002
Mutation spectrum and splicing variants in the OPA1 geneC Delettre, J M Griffoin, J Kaplan, et al.
Human Genetics|January 26, 2002
A full-length and potentially active LINE element is integrated polymorphically within the IGL locus in a genomically unstable region of chromosome 22S M Benjes, C M Morris
Human Genetics|January 26, 2002
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndromeD Kelberman, J Tyson, D C Chandler, et al.
Human Genetics|January 26, 2002
Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's diseaseR Abraham, A Myers, F Wavrant-DeVrieze, et al.
Human Genetics|January 26, 2002
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann diseaseB Campos-Xavier, J M Saraiva, R Savarirayan, et al.
Pageof 1,126