Background The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case–control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical ...
Correspondence to Professor Dr Leena Bruckner-Tuderman, Department of Dermatology, University Medical Center Freiburg, Hauptstr. 7, 79104 Freiburg, Germany; bruckner-tuderman{at}uniklinik-freiburg.de ...
Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...
Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome ...
Background Identifying genetic disease-susceptible individuals through population screening is considered as a promising approach for disease prevention. DNA mismatch repair (MMR) genes including MLH1 ...
DebRA Molecular Diagnostics Laboratory, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA Correspondence to: J Uitto Department of Dermatology and ...
9 Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 10 Department of Internal Medicine, University of Texas Medical School at Houston, ...
Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy
Background Although rare missense variants in Mendelian disease genes often cluster in specific regions of proteins, it is unclear how to consider this when evaluating the pathogenicity of a gene or ...
2 St George's University Hospitals NHS Foundation Trust, London, UK Background The 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant classification ...
Background 17q12 microdeletion and microduplication syndromes present as overlapping, multisystem disorders. We assessed the disease phenotypes of individuals with 17q12 CNV in a population-based ...
Correspondence to Dr Tuula Rinne, Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, Netherlands; tuula.rinne{at}radboudumc.nl Background This study evaluates 6 years of ...
4 Department of Pediatrics, Korea University College of Medicine, Seoul, Korea Correspondence to Dr Si Houn Hahn, Department of Pediatrics, University of Washington School of Medicine, Seattle ...
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