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D J Halley

Showing results (61-70 of 96) with videos related to

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American Journal of Medical Genetics|April 1, 1992
Intragenic probe used for diagnostics in fragile X familiesA J Verkerk, B B deVries, M F Niermeijer, et al.
Gastroenterology|July 13, 2000
Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study ConsortiumI Bronsveld, F Mekus, J Bijman, et al.
Journal of Medical Genetics|September 1, 1993
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotypeB B de Vries, J P Fryns, M G Butler, et al.
Pediatric Research|August 1, 1994
A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivityC Ris-Stalpers, T Hoogenboezem, H F Sleddens, et al.
Genomics|October 1, 1990
Genetic heterogeneity in tuberous sclerosisL A Janssen, L A Sandkuyl, E C Merkens, et al.
Journal of Medical Genetics|December 10, 1997
Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locusM Losekoot, E Hoogendoorn, R Olmer, et al.
Journal of Medical Genetics|October 23, 1998
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large familyS Verhoef, C T Schrander-Stumpel, V D Vuzevski, et al.
Human Molecular Genetics|January 1, 1994
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11Y Q Wu, P Heutink, B B de Vries, et al.
Human Mutation|February 6, 1998
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 geneS Verhoef, R Vrtel, L Bakker, et al.
Journal of Medical Genetics|October 1, 1995
General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutationB B de Vries, H Robinson, I Stolte-Dijkstra, et al.
Pageof 10

Showing results (61-70 of 96) with videos related to

Sort By:
Pageof 10
American Journal of Medical Genetics|April 1, 1992
Intragenic probe used for diagnostics in fragile X familiesA J Verkerk, B B deVries, M F Niermeijer, et al.
Gastroenterology|July 13, 2000
Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study ConsortiumI Bronsveld, F Mekus, J Bijman, et al.
Journal of Medical Genetics|September 1, 1993
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotypeB B de Vries, J P Fryns, M G Butler, et al.
Pediatric Research|August 1, 1994
A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivityC Ris-Stalpers, T Hoogenboezem, H F Sleddens, et al.
Genomics|October 1, 1990
Genetic heterogeneity in tuberous sclerosisL A Janssen, L A Sandkuyl, E C Merkens, et al.
Journal of Medical Genetics|December 10, 1997
Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locusM Losekoot, E Hoogendoorn, R Olmer, et al.
Journal of Medical Genetics|October 23, 1998
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large familyS Verhoef, C T Schrander-Stumpel, V D Vuzevski, et al.
Human Molecular Genetics|January 1, 1994
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11Y Q Wu, P Heutink, B B de Vries, et al.
Human Mutation|February 6, 1998
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 geneS Verhoef, R Vrtel, L Bakker, et al.
Journal of Medical Genetics|October 1, 1995
General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutationB B de Vries, H Robinson, I Stolte-Dijkstra, et al.
Pageof 10