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N V Whittock

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Clinical Genetics|June 18, 2004
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutationsN V Whittock, S Ellard, J Duncan, et al.
The Journal of Investigative Dermatology|September 21, 2000
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21N V Whittock, C M Coleman, W H McLean, et al.
The Journal of Investigative Dermatology|December 14, 1999
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiencyN V Whittock, G H Ashton, P J Dopping-Hepenstal, et al.
Archives of Dermatological Research|November 1, 2001
Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathicaO Bleck, G H Ashton, R Mallipeddi, et al.
The Journal of Investigative Dermatology|October 3, 1999
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresisN V Whittock, G H Ashton, R Mohammedi, et al.
Biochemical and Biophysical Research Communications|October 12, 2000
Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3N V Whittock, D M Hunt, L Rickman, et al.
American Journal of Human Genetics|December 31, 2005
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotypeD B Sparrow, G Chapman, M A Wouters, et al.
Prenatal Diagnosis|February 17, 2001
Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case reportA R Thornhill, S J Pickering, N V Whittock, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratodermaD M Hunt, L Rickman, N V Whittock, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Clinical Genetics|June 18, 2004
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutationsN V Whittock, S Ellard, J Duncan, et al.
The Journal of Investigative Dermatology|September 21, 2000
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21N V Whittock, C M Coleman, W H McLean, et al.
The Journal of Investigative Dermatology|December 14, 1999
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiencyN V Whittock, G H Ashton, P J Dopping-Hepenstal, et al.
Archives of Dermatological Research|November 1, 2001
Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathicaO Bleck, G H Ashton, R Mallipeddi, et al.
The Journal of Investigative Dermatology|October 3, 1999
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresisN V Whittock, G H Ashton, R Mohammedi, et al.
Biochemical and Biophysical Research Communications|October 12, 2000
Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3N V Whittock, D M Hunt, L Rickman, et al.
American Journal of Human Genetics|December 31, 2005
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotypeD B Sparrow, G Chapman, M A Wouters, et al.
Prenatal Diagnosis|February 17, 2001
Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case reportA R Thornhill, S J Pickering, N V Whittock, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratodermaD M Hunt, L Rickman, N V Whittock, et al.
Pageof 2