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

H G Brunner

Showing results (131-140 of 179) with videos related to

Pageof 18
Sort By:
Journal of Medical Genetics|May 4, 2004
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndromeD Beltran-Valero de Bernabé, T Voit, C Longman, et al.
Lancet (London, England)|June 26, 1999
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort studyE M Hoogerwaard, E Bakker, P F Ippel, et al.
Nature Genetics|November 13, 2001
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeM Tartaglia, E L Mehler, R Goldberg, et al.
British Journal of Cancer|April 25, 2007
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancerL I H Overbeek, C M Kets, K M Hebeda, et al.
Clinical Endocrinology|February 19, 2002
Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor geneA Richter-Unruh, J W M Martens, M Verhoef-Post, et al.
Journal of Molecular Medicine (Berlin, Germany)|November 12, 2005
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndromeE Kalay, A P M de Brouwer, R Caylan, et al.
Clinical Genetics|February 8, 2011
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephalyB W M van Bon, A Hoischen, J Hehir-Kwa, 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.
Journal of Medical Genetics|June 3, 2004
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisationJ A Veltman, H G Yntema, D Lugtenberg, et al.
American Journal of Human Genetics|March 21, 2000
Familial syndromic esophageal atresia maps to 2p23-p24J Celli, E van Beusekom, R C Hennekam, et al.
Pageof 18

Showing results (131-140 of 179) with videos related to

Sort By:
Pageof 18
Journal of Medical Genetics|May 4, 2004
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndromeD Beltran-Valero de Bernabé, T Voit, C Longman, et al.
Lancet (London, England)|June 26, 1999
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort studyE M Hoogerwaard, E Bakker, P F Ippel, et al.
Nature Genetics|November 13, 2001
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeM Tartaglia, E L Mehler, R Goldberg, et al.
British Journal of Cancer|April 25, 2007
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancerL I H Overbeek, C M Kets, K M Hebeda, et al.
Clinical Endocrinology|February 19, 2002
Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor geneA Richter-Unruh, J W M Martens, M Verhoef-Post, et al.
Journal of Molecular Medicine (Berlin, Germany)|November 12, 2005
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndromeE Kalay, A P M de Brouwer, R Caylan, et al.
Clinical Genetics|February 8, 2011
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephalyB W M van Bon, A Hoischen, J Hehir-Kwa, 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.
Journal of Medical Genetics|June 3, 2004
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisationJ A Veltman, H G Yntema, D Lugtenberg, et al.
American Journal of Human Genetics|March 21, 2000
Familial syndromic esophageal atresia maps to 2p23-p24J Celli, E van Beusekom, R C Hennekam, et al.
Pageof 18