Background Pallister-Killian syndrome is a rare, sporadic condition caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). The main features are intellectual disability, seizures, ...
Background Dysregulation of the RAS-mitogen-activated protein kinase signalling pathway underlies RASopathies, a family of ...
‡Department of Paediatrics, Royal Preston Hospital, Preston PR2 9HT, UK Dr Slavotinek, National Human Genome Research Institute, National Institutes of Health, Room 4B75, Bldg 49, 49 Convent Drive, ...
Correspondence to Dr Ian P Blair, Biomedical Sciences, Macquarie University Faculty of Medicine and Health Sciences, Sydney, NSW 2109, Australia; ian.blair{at}mq.edu.au Background Amyotrophic lateral ...
Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding ...
Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study ...
1 Academic Unit of Human Development and Health, Human Genetics and Genomics Medicine group, Faculty of Medicine, University of Southampton, Southampton, UK 2 Wessex Clinical Genetics Service, ...
1 Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA 2 Medical Genetics Branch, National Human Genome Research Institute, ...
Correspondence to: Professor J C Prinz, Department of Dermatology, University of Munich, Frauenlobstrasse 9-11, D-80337 Munich, Germany; joerg.prinz{at}lrz.uni-muenchen.de If you wish to reuse any or ...
Correspondence to: Dr A V Ivanova Laboratory of Immunobiology, Basic Research Program, SAIC-Frederick Inc, NCI-Frederick, Maryland 21702, USA; ivanovamail.ncifcrf.gov Background: STRA13 is a bHLH ...
22 Molecular Cell Biology Laboratory, Department of Internal Medicine C, Sheba Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel 23 Lund Cancer Center Department of ...
DebRA Molecular Diagnostics Laboratory, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA Correspondence to: J Uitto Department of Dermatology and ...
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