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

B C Hamel

Showing results (121-130 of 129) with videos related to

Pageof 13
Sort By:
You have reached the last page of results.This site can display upto 129 results.
American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric regionH G Yntema, B van den Helm, N V Knoers, et al.
American Journal of Human Genetics|February 11, 1999
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27H van Bokhoven, M Jung, A P Smits, et al.
Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.
Cell|October 27, 1999
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli, P Duijf, B C Hamel, et al.
Human Molecular Genetics|February 13, 2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.
American Journal of Human Genetics|February 1, 1993
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3M H Breuning, H G Dauwerse, G Fugazza, et al.
American Journal of Human Genetics|May 29, 2000
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21Y J Crow, A P Jackson, E Roberts, et al.
American Journal of Human Genetics|July 20, 2001
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven, B C Hamel, M Bamshad, et al.
Journal of Medical Genetics|January 8, 2008
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesisB W M van Bon, D A Koolen, R Borgatti, et al.
Pageof 13

Showing results (121-130 of 129) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 129 results.
American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric regionH G Yntema, B van den Helm, N V Knoers, et al.
American Journal of Human Genetics|February 11, 1999
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27H van Bokhoven, M Jung, A P Smits, et al.
Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.
Cell|October 27, 1999
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli, P Duijf, B C Hamel, et al.
Human Molecular Genetics|February 13, 2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.
American Journal of Human Genetics|February 1, 1993
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3M H Breuning, H G Dauwerse, G Fugazza, et al.
American Journal of Human Genetics|May 29, 2000
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21Y J Crow, A P Jackson, E Roberts, et al.
American Journal of Human Genetics|July 20, 2001
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven, B C Hamel, M Bamshad, et al.
Journal of Medical Genetics|January 8, 2008
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesisB W M van Bon, D A Koolen, R Borgatti, et al.
Pageof 13