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Human Mutation|May 4, 2011
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndromeWilly M Nillesen, Helger G Yntema, Marco Moscarda, et al.
NPJ Precision Oncology|October 28, 2021
GD2 CAR T cells against human glioblastomaMalvina Prapa, Chiara Chiavelli, Giulia Golinelli, et al.
European Journal of Human Genetics : EJHG|August 16, 2012
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersLuigi Boccuto, Maria Lauri, Sara M Sarasua, et al.
Scientific Reports|March 11, 2017
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C SyndromesRoser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, et al.
Human Mutation|October 21, 2006
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndromeGiuseppe Zampino, Francesca Pantaleoni, Claudio Carta, et al.
Psychiatry Research. Neuroimaging|August 29, 2022
Incidental findings on brain MRI in patients with first-episode and chronic psychosisMarcella Bellani, Cinzia Perlini, Niccolò Zovetti, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|August 10, 2012
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre studyMario Sabatelli, Serena Lattante, Amelia Conte, et al.
Human Genetics|August 7, 2007
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16Marcella Zollino, Rosetta Lecce, Marina Murdolo, et al.
Plos One|January 17, 2025
Environmental maternal exposures and the risk of premature birth and intrauterine growth restriction: The Generation Gemelli study protocol of newborn exposomeLeonardo Villani, Angelo Maria Pezzullo, Roberta Pastorino, et al.
European Journal of Human Genetics : EJHG|October 16, 2008
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeThomas E Neumann, Judith Allanson, Ines Kavamura, et al.
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