Correspondence to Dr Francesca Maltecca, Division of Genetics and Cell Biology IRCCS Ospedale San Raffaele and Università Vita-Salute San Raffaele, Via Olgettina 58, Milan 20132, Italy; ...
1 Regional Genetics Service, A Floor, Belfast City Hospital Trust, Lisburn Road, Belfast BT9 7AB, Northern Ireland 2 Department of Medical Genetics, The Queen's University of Belfast, Lisburn Road, ...
2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK This is an open access article distributed in accordance with the ...
Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating ...
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a ...
2 National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK ...
3 Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Canada Correspondence to Dr Nada Jabado, Montreal Children's Hospital Research Institute, 4060 Ste Catherine ...
1 Department of Medical Statistics and Bioinformatics, Leiden University Medical Centre, Leiden, Netherlands 2 The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden University ...
a Vitreoretinal Service, Department of Ophthalmology, Box 41, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke ...
Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair, Hadassah—Hebrew University Medical Center, Jerusalem, Israel Correspondence to Professor Abraham Zlotogorski, ...
McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and ...
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