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Gerard Pals

Showing results (71-80 of 90) with videos related to

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Circulation|April 21, 2004
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13Hidenori Shibamura, Jane M Olson, Clarissa van Vlijmen-Van Keulen, et al.
Human Mutation|August 7, 2015
SMAD2 Mutations Are Associated with Arterial Aneurysms and DissectionsDimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, et al.
Plos One|April 6, 2012
Inflammation aggravates disease severity in Marfan syndrome patientsTeodora Radonic, Piet de Witte, Maarten Groenink, et al.
Gene|October 29, 2013
Relation between genotype and left-ventricular dilatation in patients with Marfan syndromeJan J J Aalberts, J Peter van Tintelen, Lilian J Meijboom, et al.
Human Mutation|October 2, 2010
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive familyYvonne Hilhorst-Hofstee, Marry E B Rijlaarsdam, Arthur J H A Scholte, et al.
European Journal of Human Genetics : EJHG|September 13, 2012
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosusMagdalena Harakalova, Jasper van der Smagt, Carolien G F de Kovel, et al.
European Journal of Human Genetics : EJHG|June 25, 2009
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisFleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, et al.
Journal of Medical Genetics|November 9, 2013
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein armAlexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, et al.
American Journal of Human Genetics|April 17, 2007
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotypeReinhard Kalb, Kornelia Neveling, Holger Hoehn, et al.
American Journal of Medical Genetics. Part A|November 16, 2022
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationshipsPeter Lauffer, Gerard Pals, Aeilko H Zwinderman, et al.
Pageof 9

Showing results (71-80 of 90) with videos related to

Sort By:
Pageof 9
Circulation|April 21, 2004
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13Hidenori Shibamura, Jane M Olson, Clarissa van Vlijmen-Van Keulen, et al.
Human Mutation|August 7, 2015
SMAD2 Mutations Are Associated with Arterial Aneurysms and DissectionsDimitra Micha, Dong-Chuan Guo, Yvonne Hilhorst-Hofstee, et al.
Plos One|April 6, 2012
Inflammation aggravates disease severity in Marfan syndrome patientsTeodora Radonic, Piet de Witte, Maarten Groenink, et al.
Gene|October 29, 2013
Relation between genotype and left-ventricular dilatation in patients with Marfan syndromeJan J J Aalberts, J Peter van Tintelen, Lilian J Meijboom, et al.
Human Mutation|October 2, 2010
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive familyYvonne Hilhorst-Hofstee, Marry E B Rijlaarsdam, Arthur J H A Scholte, et al.
European Journal of Human Genetics : EJHG|September 13, 2012
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosusMagdalena Harakalova, Jasper van der Smagt, Carolien G F de Kovel, et al.
European Journal of Human Genetics : EJHG|June 25, 2009
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisFleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, et al.
Journal of Medical Genetics|November 9, 2013
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein armAlexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, et al.
American Journal of Human Genetics|April 17, 2007
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotypeReinhard Kalb, Kornelia Neveling, Holger Hoehn, et al.
American Journal of Medical Genetics. Part A|November 16, 2022
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationshipsPeter Lauffer, Gerard Pals, Aeilko H Zwinderman, et al.
Pageof 9