Correspondence to Dr Louis C S Tan, Department of Neurology, National Neuroscience Institute, Singapore ; louis_tan{at}nni.com.sg and Dr Eng-King Tan, Department of Neurology, National Neuroscience ...

Correspondence to Dr Volker M Lauschke, Department of Physiology and Pharmacology, Section of Pharmacogenetics, Karolinska Institutet, Stockholm, SE-171, Sweden; volker.lauschke{at}ki.se Background ...

Correspondence to M Alriyami, Department of Experimental Medicine, Research Institute of McGill University Health Centre, 1001 boul Decarie, Site Glen Pavilion E/ Block E, Mail Drop Point #EM0.3211 ...

1 Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK 2 Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK 3 Department of ...

Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testing ...

1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...

The brachydactylies are a group of conditions in which various subtypes have been defined based upon the specific pattern of digital bones involved. Type A1 brachydactyly is principally characterised ...

The veracity of the estimates in our study was corroborated by a whole population epidemiological study of NF1 in Finland (population 5.5M).5 A total of 58 MPNST were observed from 1987 to 2012, ...

Background Facioscapulohumeral muscular dystrophy 1 (FSHD1) is an autosomal dominant muscular disorder mainly caused by the contraction and hypomethylation of the D4Z4 repeat array in chromosome 4q35.

Correspondence to Dr Katharina Wimmer, Medical University of Innsbruck, Division of Human Genetics, Peter-Mayr-Strasse 1, Innsbruck 6020, Austria; katharina.wimmer{at}i-med.ac.at Due to the ...

DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11.

Correspondence to Dr Yun Yuan, Department of Neurology, Peking University First Hospital, Beijing, China; yuanyun2002{at}126.com; Dr Sushan Luo, Department of Neurology, Huashan Hospital Fudan ...