8 Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Background Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that ...
Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to pathogenic, is ...
Division of Dermatopharmacology, Department of Dermatology, The Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA K H Kraemer, DNA Repair Section, Basic Research ...
Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...
1 Department of Gastroenterology, University Medical Centre, Nijmegen, The Netherlands 2 Department of Obstetrics and Gynaecology, University Medical Centre, Nijmegen, The Netherlands 3 Department of ...
Dr A Botta, Tor Vergata University of Rome, Department of Biopathology, Via Montpellier, 1, 00133 Rome, Italy; abottait{at}yahoo.it Aim: To investigate the effects of CTG expansion length on three ...
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