D Donnai|A P Read - JoVE Visualize

Showing results (181-190 of 185) with videos related to

Pageof 19

Sort By:

You have reached the last page of results.This site can display upto 185 results.

Nature|June 6, 2000

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) ConsortiumA Smahi, G Courtois, P Vabres, et al.

Human Genetics|July 8, 1998

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutationsA L DeStefano, L A Cupples, K S Arnos, et al.

Nature Genetics|December 2, 1999

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosisC Toomes, J James, A J Wood, et al.

Human Molecular Genetics|April 1, 1997

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)P S Rowe, C L Oudet, F Francis, et al.

Journal of Medical Genetics|April 7, 2009

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.

Pageof 19

Showing results (181-190 of 185) with videos related to

Sort By:

Pageof 19

You have reached the last page of results.This site can display upto 185 results.

Nature|June 6, 2000

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) ConsortiumA Smahi, G Courtois, P Vabres, et al.

Human Genetics|July 8, 1998

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutationsA L DeStefano, L A Cupples, K S Arnos, et al.

Nature Genetics|December 2, 1999

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosisC Toomes, J James, A J Wood, et al.

Human Molecular Genetics|April 1, 1997

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)P S Rowe, C L Oudet, F Francis, et al.

Journal of Medical Genetics|April 7, 2009

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.

Pageof 19