Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service ...
Correspondence to Dr Xiao-Jie Lu, Department of General Surgery, Liver Transplantation Center, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China; 189{at}whu.edu.cn ...
Department of Obstetrics and Gynecology, College of Medicine, University of Iowa Hospitals and Clinics, Iowa City 52242-1080, USA. The association of choroid plexus cysts with fetal aneuploidy, ...
2 Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Background Brain arteriovenous malformations (BAVM) represent a congenital anomaly of the cerebral vessels with a ...
1 Meakins-Christie Laboratories and Department of Medicine, McGill Centre for Bioinformatics, McGill University, Montreal, Canada 2 School of Computer Science, McGill University, Montreal, Canada ...
Background Inherited rare skeletal muscle diseases cause muscle weakness and wasting of variable severity. Without a molecular diagnosis, patients often endure prolonged diagnostic journeys, leading ...
5 Molecular Medicine Unit, Institute of Child Health, London, UK 6 Behavioural and Brain Sciences Unit, Institute of Child Health, London, UK Correspondence to: Dr T Charman, Behavioural and Brain ...
3 The Affiliated XuZhou Hospital of Medical College of Southeast University, Xuzhou, Jiangsu Province, China 4 Xuzhou Clinical School of Xuzhou Medical College, Xuzhou, Jiangsu Province, China 5 ...
Correspondence to Li Jin, State Key laboratory of Genetic Engineering, School of life Sciences, Fudan University, Shanghai, China; lijin{at}fudan.edu.cn and Professor Shuhua Xu, Max Planck Independent ...
Department of Gynecology, University of Wisconsin Center for Health Sciences and Medical School, Madison, Wisconsin, USA Department of Obstetrics, University of Wisconsin Center for Health Sciences ...
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia
Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the α and β subunits of ...
a Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charité University Hospital, Humboldt University, D-10098 Berlin, Germany, b Department of Pediatrics and Munroe Center ...
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