3 Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Canada Correspondence to Dr Nada Jabado, Montreal Children's Hospital Research Institute, 4060 Ste Catherine ...
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy ...
Background Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to ...
Division of Pediatric Cardiology, Doernbecher Children’s Hospital, Oregon Health & Science University, Oregon, USA M Silberbach, MD, Department of Pediatrics, CDRC-P, Oregon Health and Science ...
3 Institute of Dermatology and Department of Dermatology at the First Hospital, Anhui Medical University, Hefei, Anhui, China 4 Key Lab of Gene Resource Utilization for Severe Diseases, Ministry of ...
The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype ...
We report the molecular characterisation of two families with Angelman syndrome referred for prenatal diagnosis, in which atypical molecular findings resulted in counselling dilemmas. The first is a ...
1 Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Universite catholique de Louvain, Avenue Hippocrate 74+4, Brussels, Belgium 2 Centre for Human Genetics, ...
Correspondence to M Alriyami, Department of Experimental Medicine, Research Institute of McGill University Health Centre, 1001 boul Decarie, Site Glen Pavilion E/ Block E, Mail Drop Point #EM0.3211 ...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results
Feedback