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American Journal of Medical Genetics. Part A|February 22, 2005
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literatureMarjolijn Jongmans, Erik A Sistermans, Alwin Rikken, et al.
Disease Models & Mechanisms|January 26, 2011
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defectsVincent Runtuwene, Mark van Eekelen, John Overvoorde, et al.
European Journal of Human Genetics : EJHG|October 16, 2003
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnosticsTjitske Kleefstra, Helger G Yntema, Willy M Nillesen, et al.
Genetic Testing and Molecular Biomarkers|December 24, 2011
A cytogenetic study in a large population of intellectually disabled IndonesiansFarmaditya E P Mundhofir, Tri Indah Winarni, Bregje W van Bon, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literatureTjitske Kleefstra, Nicole de Leeuw, Roy Wolf, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndromeTjitske Kleefstra, David A Koolen, Willy M Nillesen, et al.
European Journal of Medical Genetics|July 17, 2012
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomaliesMarjolein H Willemsen, Nicole de Leeuw, Arjan P M de Brouwer, et al.
European Journal of Human Genetics : EJHG|September 11, 2014
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndromeGea Beunders, Sonja A de Munnik, Nathalie Van der Aa, et al.
European Journal of Human Genetics : EJHG|September 10, 2015
Novel genetic causes for cerebral visual impairmentDaniëlle G M Bosch, F Nienke Boonstra, Nicole de Leeuw, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignanciesWei Shen, Jennifer M Heeley, Colleen M Carlston, et al.
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