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European Journal of Medical Genetics|April 6, 2010
Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problemsElga F Belligni, Raoul C M HennekamEuropean Journal of Medical Genetics|January 22, 2011
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?Elga F Belligni, Inderjeet Dokal, Raoul C M HennekamItalian Journal of Pediatrics|June 4, 2009
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disabilityElga F Belligni, Elisa Biamino, Cristina Molinatto, et al.Molecular Syndromology|December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature ReviewIlenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.American Journal of Human Genetics|August 2, 2011
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotypeMaría Palomares, Alicia Delicado, Elena Mansilla, et al.Pageof 1