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

Claudia A L Ruivenkamp

Showing results (1-10 of 80) with videos related to

Pageof 8
Sort By:
Hormone Research in Paediatrics|August 26, 2011
Molecular karyotyping: from microscope to SNP arraysAntoinet C J Gijsbers, Claudia A L Ruivenkamp
Oncogene|October 17, 2003
Five new mouse susceptibility to colon cancer loci, Scc11-Scc15Claudia A L Ruivenkamp, Tamás Csikós, Anita M Klous, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation familySetareh Moghadasi, Arie van Haeringen, Lieke Langendonck, et al.
European Journal of Endocrinology|November 19, 2015
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short statureJan M Wit, Wilma Oostdijk, Monique Losekoot, 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.
JID Innovations : Skin Science From Molecules to Population Health|December 15, 2021
Two <i>SMARCAD1</i> Variants Causing Basan Syndrome in a Canadian and a Dutch FamilyYoussef Elhaji, Tessa M A van Henten, Claudia A L Ruivenkamp, et al.
American Journal of Medical Genetics. Part A|December 23, 2024
A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type IIMackenna E Schouw, Claudia A L Ruivenkamp, Tamara T Koopmann, et al.
Gene|November 12, 2020
A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disabilityShimriet Zeidler, Lies Anne Severijnen, Helen de Boer, et al.
European Journal of Medical Genetics|June 13, 2008
A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardationAntoinet C J Gijsbers, Emilia K Bijlsma, Marjan M Weiss, et al.
Clinical Case Reports|March 31, 2025
A <i>PDLIM7</i> Variant in Familial Mitral Valve Prolapse: A Case SeriesAniek L van Wijngaarden, Tamara T Koopmann, Claudia A L Ruivenkamp, et al.
Pageof 8

Showing results (1-10 of 80) with videos related to

Sort By:
Pageof 8
Hormone Research in Paediatrics|August 26, 2011
Molecular karyotyping: from microscope to SNP arraysAntoinet C J Gijsbers, Claudia A L Ruivenkamp
Oncogene|October 17, 2003
Five new mouse susceptibility to colon cancer loci, Scc11-Scc15Claudia A L Ruivenkamp, Tamás Csikós, Anita M Klous, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation familySetareh Moghadasi, Arie van Haeringen, Lieke Langendonck, et al.
European Journal of Endocrinology|November 19, 2015
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short statureJan M Wit, Wilma Oostdijk, Monique Losekoot, 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.
JID Innovations : Skin Science From Molecules to Population Health|December 15, 2021
Two <i>SMARCAD1</i> Variants Causing Basan Syndrome in a Canadian and a Dutch FamilyYoussef Elhaji, Tessa M A van Henten, Claudia A L Ruivenkamp, et al.
American Journal of Medical Genetics. Part A|December 23, 2024
A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type IIMackenna E Schouw, Claudia A L Ruivenkamp, Tamara T Koopmann, et al.
Gene|November 12, 2020
A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disabilityShimriet Zeidler, Lies Anne Severijnen, Helen de Boer, et al.
European Journal of Medical Genetics|June 13, 2008
A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardationAntoinet C J Gijsbers, Emilia K Bijlsma, Marjan M Weiss, et al.
Clinical Case Reports|March 31, 2025
A <i>PDLIM7</i> Variant in Familial Mitral Valve Prolapse: A Case SeriesAniek L van Wijngaarden, Tamara T Koopmann, Claudia A L Ruivenkamp, et al.
Pageof 8