Correspondence to: Dr Virginia Nunes Centre de Genética Mèdica i Molecular (IRO-IDIBELL), Hospital Duran i Reynals, Gran Via Km 2.7, s/n, L’Hospitalet de Llobregat, Barcelona E-08907, Spain; vnunesiro ...

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...

Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a ...

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 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 ...

Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, 420 W 12th Avenue ...

Canadian consensus for the assessment and testing of Lynch syndrome ...

X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy ...

56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...

Rare diseases are collectively common and often extremely debilitating. Following the emergence of next-generation sequencing (NGS) technologies, the variants underpinning rare genetic disorders are ...

Correspondence to: Prof. J Poulton Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK; joanna.poultonobstetrics-gynaecology.oxford.ac.uk ...

2 The Study Group of Pneumothorax and Cystic Lung Diseases, Setagaya-Ku, Tokyo, Japan 3 Pneumothorax Center, Nissan Tamagawa Hospital, Setagaya-Ku, Tokyo, Japan 4 Division of Molecular and Biochemical ...