Department of Physiology, Biophysics, and Neuroscience, Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav-IPN), Mexico ...

1 Centre for Diabetes and Endocrine Research, University of Queensland School of Medicine, Princess Alexandra Hospital, Ipswich Rd, Woolloongabba, Qld 4102, Australia 2 The Queensland Institute of ...

Facioscapulohumeral muscular dystrophy (FHSD) is a genetically heterogeneous, autosomal dominant primary disease of muscle. The predominant form of FSHD, which has been designated FSHD1A, has been ...

4 Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy, Florence, Italy 5 Unit of Medical Genetics, Department of Medical Sciences and Public Health, University of Cagliari, ...

1 Molecular Medicine Unit, University of Leeds, St James’s University Hospital, Leeds, UK 2 Department of Clinical Genetics, St James’s University Hospital, Leeds, UK Aicardi-Goutiéres syndrome (AGS) ...

Department of Pediatrics, University of Utah, Salt Lake City 84132. The telecanthus-hypospadias (BBB) syndrome is characterised by widely spaced inner ocular canthi and hypospadias of variable degree.

Correspondence to: Professor Kate Bushby Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK; ...

3 Asan Institute for Life Sciences, Asan Medical Center, College of Medicine University of Ulsan, Seoul, The Republic of Korea Background Ambroxol (ABX) has been suggested as an augmentative ...

4 The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus Correspondence to Dr Peristera Paschou, Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA; ...

Introduction CNV is a vital pathogenic factor of congenital heart disease (CHD). However, few CNVs have been reported for total anomalous pulmonary venous connection (TAPVC), which is a rare form of ...