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The Journal of Pediatrics|April 28, 2009
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2Arash Ghalamkarpour, Christian Debauche, Eric Haan, et al.
Human Molecular Genetics|April 4, 2017
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expressionLise-Marie Donnio, Baptiste Bidon, Satoru Hashimoto, et al.
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.
European Journal of Human Genetics : EJHG|March 24, 2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesMark F Bennett, Karen L Oliver, Brigid M Regan, et al.
Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 13, 2025
Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approachSilvia Masnada, Valentina De Giorgis, Umberto Carugo, et al.
European Heart Journal. Cardiovascular Imaging|January 23, 2019
Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography studySuchi Grover, Rachael Lloyd, Rebecca Perry, et al.
Human Molecular Genetics|October 12, 2014
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisMariana Ramos-Brossier, Caterina Montani, Nicolas Lebrun, et al.
Pediatric Research|November 1, 2002
The risk of mortality or cerebral palsy in twins: a collaborative population-based studyAnn I Scher, Bev Petterson, Eve Blair, et al.
Nature|February 21, 2024
WNT signalling control by KDM5C during development affects cognitionVioletta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, et al.
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