A L. Ruivenkamp
Leiden, ZH 2300RC, Netherlands
Last Updated: 09/26/2026
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Found 9 publications
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
Journal: European journal of pediatrics
Published: April 01, 2016
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients.
Journal: Haemophilia : the official journal of the World Federation of Hemophilia
Published: January 09, 2015
Pseudoisodicentric Xp chromosome [46,X,psu idic(X)(q21.1)] and its effect on growth and pubertal development.
Journal: Hormone research in paediatrics
Published: August 27, 2013
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
Journal: Clinical genetics
Published: March 30, 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 activation.
Journal: European journal of endocrinology
Published: January 05, 2012
Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.
Journal: Journal of medical genetics
Published: November 25, 2011
Interpretation of array comparative genome hybridization data: a major challenge.
Journal: Cytogenetic and genome research
Published: November 17, 2011
Genetic analysis of short children with apparent growth hormone insensitivity.
Journal: Hormone research in paediatrics
Published: November 10, 2011
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
Journal: European journal of medical genetics
Published: September 28, 2011
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Last Updated: 09/26/2026