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European Journal of Human Genetics : EJHG|January 17, 2013
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findingsEllen A Croonen, Willy M Nillesen, Kyra E Stuurman, et al.
Circulation|February 3, 2022
Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial DysfunctionAntoinette F van Ouwerkerk, Fernanda M Bosada, Karel van Duijvenboden, et al.
European Journal of Human Genetics : EJHG|March 10, 2011
A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9qJudith B A van de Meerakker, Klaartje van Engelen, Inge B Mathijssen, et al.
HLA|August 22, 2025
Maternal-Foetal HLA-DQB1 Incompatibility Is Associated With Pregnancy-Induced Hypertensive Disorders in a Genetically Isolated PopulationLiseanne J Van't Hof, Marie-Louise P van der Hoorn, Selena Migdis, et al.
HGG Advances|April 1, 2021
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromesJulie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, et al.
Hormone Research|September 29, 2004
Genotype-phenotype correlation in patients suspected of having Sotos syndromeLonneke de Boer, Sarina G Kant, Marcel Karperien, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2020
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysmsEva S van Walree, Gregor Dombrowsky, Iris E Jansen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
Human Mutation|November 12, 2014
Variants in CUL4B are associated with cerebral malformationsAnneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.
European Journal of Medical Genetics|March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeSaskia M Maas, Adam C Shaw, Hennie Bikker, et al.
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