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 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 ...

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 & ...

Department of Physiology, Biophysics, and Neuroscience, Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav-IPN), Mexico ...

*Division of Cytogenetics, Department of Pathology, Montreal Children's Hospital and McGill University, Montreal, Canada †Department of Human Genetics, McGill University, Montreal, Quebec, Canada. ‡F ...

Hypochondroplasia (HCH) is an autosomal dominant condition characterised by short stature, micromelia, and lumbar lordosis. In a series of 29 HCH probands (13 sporadic cases, 16 familial cases), we ...

The types of malignancy reported in carriers of constitutional ring chromosomes r(11), r(13), and r(22) are concordant with the chromosomal assignment of tumour suppressor loci associated with Wilms' ...