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Journal of Pediatric Genetics|May 13, 2017
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial CaseCarmela Fusco, Pasquelena De Nittis, Ali Abdullah Alfaiz, et al.Human Mutation|February 12, 2014
TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac diseaseAli Abdullah Alfaiz, Lucia Micale, Barbara Mandriani, et al.European Journal of Human Genetics : EJHG|February 11, 2016
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasiaGaetano Terrone, Norine Voisin, Ali Abdullah Alfaiz, et al.European Journal of Human Genetics : EJHG|October 22, 2015
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1Ali Abdullah Alfaiz, Verena Müller, Nadia Boutry-Kryza, et al.American Journal of Human Genetics|May 5, 2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca, Christelle Golzio, Katrin Männik, et al.Pageof 1