Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maria Pendlebury"'
Publikováno v:
Clinical Dysmorphology. 23:16-19
Autor:
Florence Petit, Matthieu Decamp, Moira Blyth, Joris Andrieux, Ghislaine Plessis, Maria Pendlebury, Jean-Marie Cuisset
Publikováno v:
European Journal of Medical Genetics. 58:44-46
Here we report three patients affected with neurodevelopmental disorders and harbouring 21q21 deletions involving NCAM2 gene. NCAM (Neural Cell Adhesion Molecule) proteins are involved in axonal migration, synaptic formation and plasticity. Poor axon
Autor:
Maria Pendlebury, Christopher M. Watson, Ian M. Carr, Sally M. Harrison, Alison Mills, Antigoni Tzika, Paul Roberts, Andrea Coates, Laura A. Crinnion, David T. Bonthron, Sarah Hewitt, Eamonn Sheridan, Catherine Daly
Publikováno v:
American journal of medical genetics. Part A. (10)
Whole genome sequencing (WGS) has the potential to report on all types of genetic abnormality, thus converging diagnostic testing on a single methodology. Although WGS at sufficient depth for robust detection of point mutations is still some way from