Motor kinesins are a family of evolutionary conserved proteins involved in intracellular trafficking of various cargoes, first described in the context of axonal transport. They were discovered to ...

1 Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK 2 Department of Dermatology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle ...

1 Department of Plastic and Reconstructive Surgery and Burns Unit, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark 2 Wilhelm Johannsen Centre for Functional Genome Research, ...

* Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074, Republic of Singapore † National University Medical Institutes, Faculty of ...

*Department of Medical Genetics, Haartman Institute, PO Box 21 (Haartmaninkatu 3), FIN-00014 University of Helsinki, Helsinki, Finland †Finnish Genome Centre, PO Box 21 (Tukholmankatu 2), FIN-00014 ...

*Department of Clinical Genetics, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands †Department of Clinical Genetics, Erasmus University Medical Centre Rotterdam, ...

1 Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China Correspondence to Yulan Lu, Children's Hospital & ...

1 Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA 2 Surgical ...

Background Familial haemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with uncontrolled inflammation; the clinical course usually starts within the first years of life, and is ...

Correspondence to Professor Beom Hee Lee and Prof. Han-Wook Yoo, Department of Pediatrics, University of Ulsan College of Medicine and Asan Medical Center, Seoul, 05505, Korea; bhlee{at}amc.seoul.kr, ...

METHODS A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination. RESULTS ...

Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. Design: Observational and ...