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 ...
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 ...
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 ...
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 ...
DebRA Molecular Diagnostics Laboratory, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA Correspondence to: J Uitto Department of Dermatology and ...
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