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, ...

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes ...

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 ...

7 INSERM U621, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France 8 Laboratoire de génétique et insuffisance cardiaque, Association Claude Bernard, IFR 14, Groupe Hospitalier ...

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; ...

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 TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent ...

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Background: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. Methods: This study aimed to identify the mutation present in four unrelated ...

1 Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, USA 2 The Wistar Institute, and The ...

1 Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada 2 W. Maurice Young Centre for Applied Ethics, University of British Columbia, Vancouver, BC, ...