A P Read|V E Newton - JoVE Visualize

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Human Genetics|July 1, 1986

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysisA P Read, R V Thakker, K E Davies, et al.

Lancet (London, England)|December 5, 1987

Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophyS M Forrest, T J Smith, G S Cross, et al.

International Journal of Pediatric Otorhinolaryngology|December 22, 1999

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findingsR F Mueller, A Nehammer, A Middleton, et al.

American Journal of Human Genetics|February 1, 1995

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37L C Wilson, K Leverton, M E Oude Luttikhuis, et al.

Journal of Medical Genetics|July 1, 1995

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13qG Van Camp, M N Van Thienen, I Handig, et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 13, 1999

Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophagesS J Smith, A K Rucka, J L Berry, et al.

Human Genetics|March 1, 1996

The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE)P S Rowe, J N Goulding, F Francis, et al.

European Journal of Human Genetics : EJHG|February 15, 2001

Elastin: mutational spectrum in supravalvular aortic stenosisK Metcalfe, A K Rucka, L Smoot, et al.

Nature Genetics|February 14, 1998

SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseV Pingault, N Bondurand, K Kuhlbrodt, 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.

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Showing results (81-90 of 92) with videos related to

Sort By:

Pageof 10

Human Genetics|July 1, 1986

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysisA P Read, R V Thakker, K E Davies, et al.

Lancet (London, England)|December 5, 1987

Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophyS M Forrest, T J Smith, G S Cross, et al.

International Journal of Pediatric Otorhinolaryngology|December 22, 1999

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findingsR F Mueller, A Nehammer, A Middleton, et al.

American Journal of Human Genetics|February 1, 1995

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37L C Wilson, K Leverton, M E Oude Luttikhuis, et al.

Journal of Medical Genetics|July 1, 1995

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13qG Van Camp, M N Van Thienen, I Handig, et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 13, 1999

Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophagesS J Smith, A K Rucka, J L Berry, et al.

Human Genetics|March 1, 1996

The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE)P S Rowe, J N Goulding, F Francis, et al.

European Journal of Human Genetics : EJHG|February 15, 2001

Elastin: mutational spectrum in supravalvular aortic stenosisK Metcalfe, A K Rucka, L Smoot, et al.

Nature Genetics|February 14, 1998

SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseV Pingault, N Bondurand, K Kuhlbrodt, 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.

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