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European Journal of Medical Genetics|January 2, 2014
Distinct phenotype of PHF6 deletions in femalesN Di Donato, B Isidor, S Lopez Cazaux, et al.American Journal of Medical Genetics. Part A|July 24, 2012
Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndromeN Di Donato, A Riess, K Hackmann, et al.European Journal of Human Genetics : EJHG|June 13, 2013
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutationsN Di Donato, A Rump, R Koenig, et al.Journal of Intellectual Disability Research : JIDR|October 9, 2020
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromesP A Mulder, I D C van Balkom, A M Landlust, et al.Pageof 2