Li-Fraumeni syndrome (LFS) is a high-risk hereditary cancer predisposition syndrome affecting 1 in 5000 individuals. Current ...
Correspondence to: Prof. J Poulton Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK; joanna.poultonobstetrics-gynaecology.oxford.ac.uk ...
Neonatal haemochromatosis (NH) is a severe and newly recognised syndrome of uncertain aetiology, characterised by congenital cirrhosis or fulminant hepatitis and widespread tissue iron deposition. NH ...
Objective: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome ...
Purpose and scope The aim of this position statement is to provide recommendations aimed at Canadian reproductive care clinicians and genetics professionals regarding the use of reproductive carrier ...
The Hospital for Children and Adolescents, Biomedicum Helsinki, University of Helsinki, 00029 HYKS, Finland Correspondence to: Dr M Lipsanen-Nyman The Hospital for Children and Adolescents, University ...
1 Academic Unit of Medical Genetics, St Mary’s Hospital, University of Manchester, Manchester, UK 2 Centre for Molecular Medicine, Faculty of Medical and Human Sciences, University of Manchester, ...
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