Background This study investigates the genotype-phenotype correlation associated with a recurrent der(17) rearrangement combining a 19p13.3 duplication and a 17q25.3 deletion and evaluates whether the ...
Background Tumour testing for microsatellite instability (MSI) or mismatch repair deficiency (dMMR) is used to screen for Lynch syndrome (LS) and as a biomarker for response to immune checkpoint ...
Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials ...
Correspondence to Professor Johannes Häberle, Division of Metabolism, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich 8032, Switzerland; Johannes.haeberle{at}kispi.uzh.ch Background ...
1 Neurogenetics Unit, Montreal Neurological Hospital and Institute, and the Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada 2 Neurogenetics Unit, Montreal ...
Objectives To determine if the anatomical severity of oral clefting affects familial recurrence in a large population based sample. To provide reliable recurrence risk estimates for oral cleft for ...
7 Shenzhen People’s Hospital, Second Clinical Medical College of Jinan University, Shenzhen, China Background To better understand the pathogenesis of cervical cancer (CC), we systematically analysed ...
Background Adeno-associated virus (AAV)-mediated mini- and micro-dystrophin gene therapies have emerged as promising treatments for Duchenne muscular dystrophy (DMD), yet their overall efficacy and ...
Correspondence to Dr Tuula Rinne, Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, Netherlands; tuula.rinne{at}radboudumc.nl Background This study evaluates 6 years of ...
Background: Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we identify the reciprocal 17q21.31 duplication syndrome in 4 patients. Method: Patients with the ...
Background Dysregulation of the RAS-mitogen-activated protein kinase signalling pathway underlies RASopathies, a family of ...
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