21q21 deletion involving NCAM2 : Report of 3 cases with neurodevelopmental disorders
Petit, Florence, Plessis, Ghislaine, Decamp, Matthieu, Cuisset, Jean-Marie, Blyth, Moira, Pendlebury, Maria, Andrieux, Joris
Published in European journal of medical genetics (01.01.2015)
Published in European journal of medical genetics (01.01.2015)
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Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome
Watson, Christopher M., Crinnion, Laura A., Tzika, Antigoni, Mills, Alison, Coates, Andrea, Pendlebury, Maria, Hewitt, Sarah, Harrison, Sally M., Daly, Catherine, Roberts, Paul, Carr, Ian M., Sheridan, Eamonn G., Bonthron, David T.
Published in American journal of medical genetics. Part A (01.10.2014)
Published in American journal of medical genetics. Part A (01.10.2014)
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