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

Martijn H Breuning

Showing results (21-30 of 112) with videos related to

Pageof 12
Sort By:
Hormone Research in Paediatrics|March 11, 2010
Genome-wide SNP array analysis in patients with features of sotos syndromeRemco Visser, Antoinet Gijsbers, Claudia Ruivenkamp, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic featuresJohannes G Dauwerse, Claudia A Ruivenkamp, Kerstin Hansson, et al.
Journal of Medical Genetics|January 16, 2007
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, et al.
Journal of Medical Genetics|September 14, 2012
Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemiaMaartje Nielsen, Clementien L Vermont, Emmelien Aten, et al.
European Journal of Human Genetics : EJHG|January 5, 2006
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplicationsMarjolein Kriek, Stefan J White, Karoly Szuhai, et al.
Human Mutation|June 29, 2004
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostosesStefan J White, Geraldine R Vink, Marjolein Kriek, et al.
Human Molecular Genetics|October 13, 2007
Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult miceIrma S Lantinga-van Leeuwen, Wouter N Leonhard, Annemieke van der Wal, et al.
European Journal of Human Genetics : EJHG|November 25, 2010
Experiences with array-based sequence capture; toward clinical applicationsRowida Almomani, Jaap van der Heijden, Yavuz Ariyurek, et al.
Human Mutation|November 22, 2012
Exome sequencing identifies a branch point variant in Aarskog-Scott syndromeEmmelien Aten, Yu Sun, Rowida Almomani, et al.
Nederlands Tijdschrift Voor Geneeskunde|September 17, 2015
[Maturity-onset diabetes of the young]Karin van der Tuin, Sabine E Hannema, E C A M Mieke Houdijk, et al.
Pageof 12

Showing results (21-30 of 112) with videos related to

Sort By:
Pageof 12
Hormone Research in Paediatrics|March 11, 2010
Genome-wide SNP array analysis in patients with features of sotos syndromeRemco Visser, Antoinet Gijsbers, Claudia Ruivenkamp, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic featuresJohannes G Dauwerse, Claudia A Ruivenkamp, Kerstin Hansson, et al.
Journal of Medical Genetics|January 16, 2007
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, et al.
Journal of Medical Genetics|September 14, 2012
Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemiaMaartje Nielsen, Clementien L Vermont, Emmelien Aten, et al.
European Journal of Human Genetics : EJHG|January 5, 2006
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplicationsMarjolein Kriek, Stefan J White, Karoly Szuhai, et al.
Human Mutation|June 29, 2004
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostosesStefan J White, Geraldine R Vink, Marjolein Kriek, et al.
Human Molecular Genetics|October 13, 2007
Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult miceIrma S Lantinga-van Leeuwen, Wouter N Leonhard, Annemieke van der Wal, et al.
European Journal of Human Genetics : EJHG|November 25, 2010
Experiences with array-based sequence capture; toward clinical applicationsRowida Almomani, Jaap van der Heijden, Yavuz Ariyurek, et al.
Human Mutation|November 22, 2012
Exome sequencing identifies a branch point variant in Aarskog-Scott syndromeEmmelien Aten, Yu Sun, Rowida Almomani, et al.
Nederlands Tijdschrift Voor Geneeskunde|September 17, 2015
[Maturity-onset diabetes of the young]Karin van der Tuin, Sabine E Hannema, E C A M Mieke Houdijk, et al.
Pageof 12