Novel mutations of maternal effect gene thyroid hormone receptor interactor 13 involved in biparental complete hydatidiform mole. [PDF]
Zhan Q, Yang X, Wang Y.
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Clinical and genetic investigations of five Chinese families with Birt-Hogg-Dubé syndrome: a long-term follow-up study. [PDF]
Kang X, Guo T, Basit A, Liu L, Luo H.
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Case Report: A case of Culler-Jones syndrome caused by <i>GLI2</i> gene mutation. [PDF]
Xie X +6 more
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Case Report: A novel <i>de novo SPI1</i> mutation identified in a Chinese patient with agammaglobulinemia. [PDF]
Peng Q +6 more
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Demographic, physical and mental health assessments in the adolescent brain and cognitive development study: Rationale and description [PDF]
Barch, Deanna M, et al,
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Cardiac Manifestations of Alkaptonuria: Aortic Valve Stenosis and Coronary Artery Disease in a 63-Year-Old Patient. [PDF]
Solís Chávez MB +4 more
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A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency. [PDF]
Zhang Y +4 more
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