jmg.bmj2 个月
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between ...
Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...
jmg.bmj1 个月
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder ...
2 National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK ...
jmg.bmj1 个月
Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and ...
3 Asan Institute for Life Sciences, Asan Medical Center, College of Medicine University of Ulsan, Seoul, The Republic of Korea Background Ambroxol (ABX) has been suggested as an augmentative ...
jmg.bmj1 个月
Genetics of congenital hypothyroidism
1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...
jmg.bmj8 年
Clinical features for diagnosis and management of patients with PRDM12 congenital ...
Background Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 ...
jmg.bmj5 天
Prevalence of Fabry disease-causing variants in the UK Biobank
Background Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ ...
jmg.bmj1 年
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish ...
Background Polygenic risk score (PRS), calculated based on genome-wide association studies (GWASs), can improve breast cancer (BC) risk assessment. To date, most BC GWASs have been performed in ...
jmg.bmj6 年
Coffin-Lowry syndrome: clinical and molecular features
1 Institut de Génétique et du Biologie Moleculaire et Cellulaire, CNRS INSERM, Université Louis Pasteur, Illkirch, CU de Strasbourg, France 2 Department of Clinical Genetics, Leicester Royal Infirmary ...
jmg.bmj17 天
Orofaciodigital syndrome with mesomelic limb shortening.
Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated ...
jmg.bmj2 个月
Impact of DNA source on genetic variant detection from human whole-genome sequencing data
Background Whole blood is currently the most common DNA source for whole-genome sequencing (WGS), but for studies requiring non-invasive collection, self-collection, greater sample stability or ...
jmg.bmj5 个月
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations ...
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 ...