Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study

Por Wong, Monica T. Y., Lambeck, Annechien J. A., van der Burg, Mirjam, la Bastide-van Gemert, Sacha, Hogendorf, Lianne A., van Ravenswaaij-Arts, Conny M. A., Schölvinck, Elisabeth H.
Publicado no PLoS One (2015)

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

Por O'Grady, Gina L, Ma, Alan, Sival, Deborah, Wong, Monica T Y, Peduto, Tony, Menezes, Manoj P, Young, Helen, Waddell, Leigh, Ghaoui, Roula, Needham, Merrilee, Lek, Monkol, North, Kathryn N, MacArthur, Daniel G, van Ravenswaaij-Arts, Conny MA, Clarke, Nigel F
Publicado no Eur J Hum Genet (2016)