Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome ...
Department of Neurology, School of Neurosciences and Psychiatry, The Medical School, University of Newcastle Upon Tyne, UK Correspondence to: Dr P F Chinnery, Department of Neurology, School of ...
1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...
Purpose To determine the impact of additional genetic screening techniques on the rate of detection of pathogenic variants leading to familial NF2-related schwannomatosis. Methods We conducted genetic ...
Correspondence to Dr Mary Helen Black, Bioinformatics, Ambry Genetics Corp, Aliso Viejo, CA 92656, USA; mblack{at}ambrygen.com Conclusion Our study demonstrates that when used separately or in ...
9 Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 10 Department of Internal Medicine, University of Texas Medical School at Houston, ...
9 Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel 10 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Background Constitutional mismatch repair deficiency syndrome ...
1 Institut National de la Santé et de la Recherche Médicale (INSERM) UMR_S933, Université Pierre et Marie Curie (UPMC) - Paris 6; and Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital ...
Division of Endocrinology, Children’s Hospital Boston, Boston, Massachusetts, USA Dr B-L Wu, Department of Laboratory Medicine, Children’s Hospital Boston, 300 Longwood Ave, Boston, Massachusetts ...
Background Variants in the type IV collagen gene ( COL4A1/2 ) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with ...
1 Paediatric Neurology Unit, Sheba Medical Centre, Ramat-Gan, Israel 2 Neuroradiology Unit, Sheba Medical Centre, Ramat-Gan, Israel 3 Metabolic-Neurogenetic Clinic, Paediatric Neurology Unit, Wolfson ...
Background GGC repeat expansion in NOTCH2NLC has been recently linked to neuronal intranuclear inclusion disease (NIID) via unknown disease mechanisms. Herein, we explore the genetic origin of the ...
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