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E R Maher

Showing results (111-120 of 171) with videos related to

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Scientifica|November 27, 2013
A Novel ABCA12 Mutation in Two Families with Congenital IchthyosisD M Walsh, S H Shah, M A Simpson, et al.
Cancer Research|September 24, 1999
Detailed genetic and physical mapping of tumor suppressor loci on chromosome 3p in ovarian cancerP Fullwood, S Marchini, J S Rader, et al.
Lancet (London, England)|April 27, 2001
Germline SDHD mutation in familial phaeochromocytomaD Astuti, F Douglas, T W Lennard, et al.
American Journal of Human Genetics|June 19, 2001
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paragangliomaD Astuti, F Latif, A Dallol, et al.
European Journal of Cancer (Oxford, England : 1990)|July 27, 2002
Frequent 3p allele loss and epigenetic inactivation of the RASSF1A tumour suppressor gene from region 3p21.3 in head and neck squamous cell carcinomaR P Hogg, S Honorio, A Martinez, et al.
Journal of Medical Genetics|July 1, 1991
Von Hippel-Lindau disease: a genetic studyE R Maher, L Iselius, J R Yates, et al.
Journal of Medical Genetics|September 3, 2002
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)I A Aligianis, T Forshew, S Johnson, et al.
Human Molecular Genetics|May 2, 2001
Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau diseaseS C Clifford, M E Cockman, A C Smallwood, et al.
The British Journal of Ophthalmology|January 25, 2003
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphylomaM A Reddy, P J Francis, V Berry, et al.
Genes, Chromosomes & Cancer|August 1, 1997
Analysis of multiple renal cell adenomas and carcinomas suggests allelic loss at 3p21 to be a prerequisite for malignant developmentA van den Berg, T Dijkhuizen, T G Draaijers, et al.
Pageof 18

Showing results (111-120 of 171) with videos related to

Sort By:
Pageof 18
Scientifica|November 27, 2013
A Novel ABCA12 Mutation in Two Families with Congenital IchthyosisD M Walsh, S H Shah, M A Simpson, et al.
Cancer Research|September 24, 1999
Detailed genetic and physical mapping of tumor suppressor loci on chromosome 3p in ovarian cancerP Fullwood, S Marchini, J S Rader, et al.
Lancet (London, England)|April 27, 2001
Germline SDHD mutation in familial phaeochromocytomaD Astuti, F Douglas, T W Lennard, et al.
American Journal of Human Genetics|June 19, 2001
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paragangliomaD Astuti, F Latif, A Dallol, et al.
European Journal of Cancer (Oxford, England : 1990)|July 27, 2002
Frequent 3p allele loss and epigenetic inactivation of the RASSF1A tumour suppressor gene from region 3p21.3 in head and neck squamous cell carcinomaR P Hogg, S Honorio, A Martinez, et al.
Journal of Medical Genetics|July 1, 1991
Von Hippel-Lindau disease: a genetic studyE R Maher, L Iselius, J R Yates, et al.
Journal of Medical Genetics|September 3, 2002
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)I A Aligianis, T Forshew, S Johnson, et al.
Human Molecular Genetics|May 2, 2001
Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau diseaseS C Clifford, M E Cockman, A C Smallwood, et al.
The British Journal of Ophthalmology|January 25, 2003
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphylomaM A Reddy, P J Francis, V Berry, et al.
Genes, Chromosomes & Cancer|August 1, 1997
Analysis of multiple renal cell adenomas and carcinomas suggests allelic loss at 3p21 to be a prerequisite for malignant developmentA van den Berg, T Dijkhuizen, T G Draaijers, et al.
Pageof 18