1 Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands 2 Research Unit of the Department of Plastic and ...
Erika Frangione, Radhika Mahajan, Juan De Los Rios, Selina Casalino, Navneet Aujla, Saranya Arnoldo, Alexandra Binnie, Bjug Borgundvaag, Marc Dagher, Luke Devine, Hanna Faghfoury, Steven Marc Friedman ...
Correspondence to Dr Pei-Lan Zhang, Department of Neurology, Tianjin Huanhu Hospital, Jinnanqu, Tianjin 300350, P.R. China; peilanzhng{at}sina.com and Dr Pedro Fernandez-Funez, Department of ...
Correspondence to Dr Philippe Debeer, Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; philippe.debeer{at}uzleuven.be Methods and results Five unique, ...
Correspondence to Dr Ludger Schöls, Clinical Neurogenetics, Department of Neurology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str. 3, D 72076 Tübingen, ...
7 AP-HP, Referral Center for Rare Buccal and Facial Dysmorphologies CRMR MAFACE, Hôpital Rothschild, Paris, France Methods Six FHHNC Brazilian patients were subjected to mutational analysis. Three ...
Correspondence to Dr Katharina Wimmer, Division of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria; katharina.wimmer{at}i-med.ac.at The C4CMMRD consortium, an interdisciplinary ...
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 ...
Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual ...
Duchenne muscular dystrophy (DMD) is a severe X-linked myopathy characterised by progressive skeletal and cardiac muscle degeneration, loss of ambulation, respiratory failure and premature mortality.
Background Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has ...
Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We ...
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