Background We present genomic and phenotypic findings of a transgenerational family consisting of three male offspring, each with a maternally inherited distal 220 kb deletion at locus 16p11.2 ...
2 Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Background Brain arteriovenous malformations (BAVM) represent a congenital anomaly of the cerebral vessels with a ...
Background Inherited rare skeletal muscle diseases cause muscle weakness and wasting of variable severity. Without a molecular diagnosis, patients often endure prolonged diagnostic journeys, leading ...
Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi ...
5 Molecular Medicine Unit, Institute of Child Health, London, UK 6 Behavioural and Brain Sciences Unit, Institute of Child Health, London, UK Correspondence to: Dr T Charman, Behavioural and Brain ...
Background Genetic deletions at Xp22.31 are associated with the skin condition X linked ichthyosis (XLI), and with a substantially increased risk of atrial fibrillation/flutter (AF), in males. AF is ...
Background Historically, renal cell carcinoma (RCC) is one of the main causes of death in von Hippel-Lindau (VHL) disease. However, the natural history of VHL-related RCC has not been thoroughly ...
Department of Gynecology, University of Wisconsin Center for Health Sciences and Medical School, Madison, Wisconsin, USA Department of Obstetrics, University of Wisconsin Center for Health Sciences ...
Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 ...
3 Medical Faculty of the University of Porto, Porto, Portugal ...
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