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C A L Ruivenkamp

Showing results (1-10 of 16) with videos related to

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Cytogenetic and Genome Research|November 17, 2011
Interpretation of array comparative genome hybridization data: a major challengeA C J Gijsbers, J Schoumans, C A L Ruivenkamp
Hormone Research in Paediatrics|April 10, 2014
Pseudoisodicentric Xp chromosome [46,X,psu idic(X)(q21.1)] and its effect on growth and pubertal developmentH J van der Kamp, S G Kant, C A L Ruivenkamp, et al.
Cytogenetic and Genome Research|May 1, 2010
A subtle familial translocation t(3;21)(p26.3;q22.3): an apparently healthy boy with a 3p deletion and 21q duplicationA C J Gijsbers, A van Haeringen, C A J Bosch, et al.
Journal of Medical Genetics|February 28, 2009
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parentsJ Knijnenburg, S A J Lesnik Oberstein, K Frei, et al.
European Journal of Pediatrics|January 1, 2017
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndromeM C van Rij, M L Grijsen, N M Appelman-Dijkstra, et al.
Clinical Genetics|July 19, 2012
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissectionY Hilhorst-Hofstee, A J H A Scholte, M E B Rijlaarsdam, et al.
Journal of Medical Genetics|November 25, 2011
Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomyM Losekoot, C A L Ruivenkamp, A P Tholens, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|February 7, 2015
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patientsD E Fransen van de Putte, W S Frankhuizen, L Vijfhuizen, et al.
European Journal of Endocrinology|January 5, 2012
A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activationD Mul, S Wu, R A de Paus, et al.
The Journal of Clinical Endocrinology and Metabolism|July 30, 2010
Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 geneH A van Duyvenvoorde, P A van Setten, M J E Walenkamp, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Cytogenetic and Genome Research|November 17, 2011
Interpretation of array comparative genome hybridization data: a major challengeA C J Gijsbers, J Schoumans, C A L Ruivenkamp
Hormone Research in Paediatrics|April 10, 2014
Pseudoisodicentric Xp chromosome [46,X,psu idic(X)(q21.1)] and its effect on growth and pubertal developmentH J van der Kamp, S G Kant, C A L Ruivenkamp, et al.
Cytogenetic and Genome Research|May 1, 2010
A subtle familial translocation t(3;21)(p26.3;q22.3): an apparently healthy boy with a 3p deletion and 21q duplicationA C J Gijsbers, A van Haeringen, C A J Bosch, et al.
Journal of Medical Genetics|February 28, 2009
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parentsJ Knijnenburg, S A J Lesnik Oberstein, K Frei, et al.
European Journal of Pediatrics|January 1, 2017
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndromeM C van Rij, M L Grijsen, N M Appelman-Dijkstra, et al.
Clinical Genetics|July 19, 2012
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissectionY Hilhorst-Hofstee, A J H A Scholte, M E B Rijlaarsdam, et al.
Journal of Medical Genetics|November 25, 2011
Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomyM Losekoot, C A L Ruivenkamp, A P Tholens, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|February 7, 2015
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patientsD E Fransen van de Putte, W S Frankhuizen, L Vijfhuizen, et al.
European Journal of Endocrinology|January 5, 2012
A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activationD Mul, S Wu, R A de Paus, et al.
The Journal of Clinical Endocrinology and Metabolism|July 30, 2010
Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 geneH A van Duyvenvoorde, P A van Setten, M J E Walenkamp, et al.
Pageof 2