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 Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands 2 Department of Pediatric Cardiology, Emma Children's Hospital, Academic Medical ...

Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss ...

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 ...

Correspondence to G Beunders, Department of Clinical Genetics, VU University Medical Center Amsterdam, Reception D, De Boellelaan 1117, Amsterdam 1081 HV, The Netherlands; g.beunders{at}vumc.nl ...

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 Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH, USA 2 Department of Pediatrics, University Hospitals of Cleveland, Cleveland, OH, USA 3 Department of Radiology, ...

* 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 ...

Background: Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt–Hopkins syndrome (PTHS), an underdiagnosed ...

We describe a 27 month old female child with partial monosomy for the short arm of chromosome 12: 46,XX,del(12)(p13.1----p13.3). She differs from the eight cases described by others, in that she is ...

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, ...