Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

J Halley

Showing results (121-130 of 194) with videos related to

Pageof 20
Sort By:
The Journal of Clinical Investigation|December 26, 2001
Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblingsI Bronsveld, F Mekus, J Bijman, et al.
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.
JIMD Reports|February 23, 2013
Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic ProcessE J Langereis, I E T van den Berg, D J J Halley, 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.
Developmental Medicine and Child Neurology|March 18, 2011
Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalitiesMarie-Claire Y de Wit, Jojanneke de Rijk-van Andel, Dicky J Halley, 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.
Pageof 20

Showing results (121-130 of 194) with videos related to

Sort By:
Pageof 20
The Journal of Clinical Investigation|December 26, 2001
Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblingsI Bronsveld, F Mekus, J Bijman, et al.
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.
JIMD Reports|February 23, 2013
Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic ProcessE J Langereis, I E T van den Berg, D J J Halley, 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.
Developmental Medicine and Child Neurology|March 18, 2011
Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalitiesMarie-Claire Y de Wit, Jojanneke de Rijk-van Andel, Dicky J Halley, 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.
Pageof 20