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Genetic Counseling (Geneva, Switzerland)|May 23, 2002
Trisomy 9p syndrome in two brothers: with new clinical findings and review of the literatureS Hacihanefioğlu, G S Güven, A Deviren, et al.Genetic Counseling (Geneva, Switzerland)|February 22, 2008
Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel featuresE Yosunkaya Fenerci, G S Guven, D Kuru, et al.Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.American Journal of Medical Genetics. Part A|September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.Pageof 4