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

P N Robinson

Showing results (71-80 of 88) with videos related to

Pageof 9
Sort By:
Molecular Syndromology|August 3, 2012
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of MicrocephalinM Ghani-Kakhki, P N Robinson, S Morlot, et al.
Clinical Genetics|April 3, 1999
Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndromeP Booms, J Cisler, K R Mathews, et al.
VASA. Zeitschrift Fur Gefasskrankheiten|February 27, 2010
Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?Y von Kodolitsch, M Rybczynski, A Bernhardt, et al.
Gene Expression Patterns : GEP|July 11, 2006
Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse modelJ Hecht, V Seitz, M Urban, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|September 12, 2013
TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathologyM Dziubianau, J Hecht, L Kuchenbecker, et al.
Clinical Genetics|September 3, 2013
Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutationS Sheikhzadeh, C Sondermann, M Rybczynski, et al.
Clinical Oncology (Royal College of Radiologists (Great Britain))|January 21, 2025
A Systematic Approach to Prioritise Diagnostically Useful Findings for Inclusion in Electronic Health Records as Discrete Data to Improve Clinical Artificial Intelligence Tools and Genomic ResearchP Guillod, A Savvas, P N Robinson, et al.
Clinical Genetics|July 29, 2010
Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2S Sheikhzadeh, M Rybczynski, C R Habermann, et al.
QJM : Monthly Journal of the Association of Physicians|February 4, 2012
A simple clinical model to estimate the probability of Marfan syndromeS Sheikhzadeh, M L Kusch, M Rybczynski, et al.
American Journal of Medical Genetics|April 11, 2000
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlationM Palz, F Tiecke, P Booms, et al.
Pageof 9

Showing results (71-80 of 88) with videos related to

Sort By:
Pageof 9
Molecular Syndromology|August 3, 2012
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of MicrocephalinM Ghani-Kakhki, P N Robinson, S Morlot, et al.
Clinical Genetics|April 3, 1999
Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndromeP Booms, J Cisler, K R Mathews, et al.
VASA. Zeitschrift Fur Gefasskrankheiten|February 27, 2010
Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?Y von Kodolitsch, M Rybczynski, A Bernhardt, et al.
Gene Expression Patterns : GEP|July 11, 2006
Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse modelJ Hecht, V Seitz, M Urban, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|September 12, 2013
TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathologyM Dziubianau, J Hecht, L Kuchenbecker, et al.
Clinical Genetics|September 3, 2013
Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutationS Sheikhzadeh, C Sondermann, M Rybczynski, et al.
Clinical Oncology (Royal College of Radiologists (Great Britain))|January 21, 2025
A Systematic Approach to Prioritise Diagnostically Useful Findings for Inclusion in Electronic Health Records as Discrete Data to Improve Clinical Artificial Intelligence Tools and Genomic ResearchP Guillod, A Savvas, P N Robinson, et al.
Clinical Genetics|July 29, 2010
Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2S Sheikhzadeh, M Rybczynski, C R Habermann, et al.
QJM : Monthly Journal of the Association of Physicians|February 4, 2012
A simple clinical model to estimate the probability of Marfan syndromeS Sheikhzadeh, M L Kusch, M Rybczynski, et al.
American Journal of Medical Genetics|April 11, 2000
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlationM Palz, F Tiecke, P Booms, et al.
Pageof 9