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Journal of Community Genetics|May 31, 2017
With expanded carrier screening, founder populations run the risk of being overlookedInge B Mathijssen, Merel C van Maarle, Iris I M Kleiss, et al.
Prenatal Diagnosis|March 14, 2015
Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasmaJessica M E van den Oever, Emilia K Bijlsma, Ilse Feenstra, et al.
European Journal of Human Genetics : EJHG|January 12, 2018
Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder populationInge B Mathijssen, Kim C A Holtkamp, Cecile P E Ottenheim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 5, 2022
De novo variants in the PABP domain of PABPC1 lead to developmental delayMeret Wegler, Xiangbin Jia, Marielle Alders, et al.
European Journal of Medical Genetics|February 3, 2015
Targeted carrier screening for four recessive disorders: high detection rate within a founder populationInge B Mathijssen, Lidewij Henneman, Janneke M C van Eeten-Nijman, et al.
Circulation Research|May 3, 2008
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillationAlex V Postma, Judith B A van de Meerakker, Inge B Mathijssen, et al.
Cardiovascular Research|June 4, 2010
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndromeCornelis J J Boogerd, Dennis Dooijes, Aho Ilgun, et al.
Retina (Philadelphia, Pa.)|July 6, 2016
LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual VariabilityInge B Mathijssen, Ralph J Florijn, L Ingeborgh van den Born, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposisTessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceM Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, et al.
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