As of 1 January 2025, the Journal of Medical Genetics (JMG) has become the official journal of the British Society for Genetic Medicine (BSGM), an exciting new partnership will strengthen the exchange ...
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, ...
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 ...
6 Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands 7 Department of Medical Genetics, University Medical Center Utrecht ...
4 Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands 5 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands 6 ...
8 Department of Medical Genetics, University of Texas Medical School, Houston, USA 9 Department of Medical Genetics, University of Pennsylvania, Philadelphia, USA The diagnosis of Marfan syndrome (MFS ...
Correspondence to Dr Chantal Babb de Villiers, PHG Foundation, University of Cambridge, Cambridge CB1 8RN, UK; chantal.babbdevilliers{at}phgfoundation.org The use of genomic information to better ...
Background Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental ...
Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...
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