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 ...
Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2XY, UK Huntington’s disease (HD) is thought to show ...
We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a ...
12 NIH Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA Correspondence to Dr Andrea Poretti, Section of Pediatric Neuroradiology, Division of ...
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes ...
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; ...
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, ...
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 ...
Background For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A testing pathway of somatic tumour testing triage followed by germline mismatch ...
1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...
Background The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. Methods We studied 70 homozygous, compound heterozygous or heterozygous for CFTR ...
Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1
1 Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA 2 Genetic and Molecular Biology Branch, National Human Genome ...
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