4 Department of Pediatrics, Korea University College of Medicine, Seoul, Korea Correspondence to Dr Si Houn Hahn, Department of Pediatrics, University of Washington School of Medicine, Seattle ...

Background Despite well-established criteria for genetic testing to rule out hereditary cancer syndromes (HCSs), most pathogenic variant (PV) carriers are not being tested. Thus, mechanisms that allow ...

1 Department of Clinical Neurosciences, Guy’s, Kings and St. Thomas’ School of Medicine, London, UK 2 Centre for Neuroscience Research, Guy’s, Kings and St. Thomas’ School of Biomedical Sciences, ...

Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the diagnosis commonly occurs, contributed ...

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, IFREM, Institut Necker, Hôpital des Enfants-Malades, Paris, France. Spinal muscular atrophy (SMA) is characterised by ...

* 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 ...

Objectives Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention ...

a Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Primary Care and Population Sciences, University College Medical School, Royal Free Campus, Rowland Hill Street, ...

Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Federal Republic of Germany. We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, ...

A 9-year-old boy with classical clinical features of trisomy 13 (Patau's syndrome), with confirmation on chromosome analysis of blood and skin, is reported in view of his relative longevity.

5 Saudi Human Genome Project, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia Background Inherited cystic kidney disorders are a common cause of end-stage renal disease.

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 ...