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American Journal of Medical Genetics. Part A|March 26, 2014
The intellectual disabilities evaluation and advice system (IDEAS): outcome of the first 55 casesAlasdair G W Hunter, John M Graham, Giovanni Neri, et al.European Journal of Medical Genetics|July 21, 2015
NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients seriesFiorella Gurrieri, Maria Luigia Cavaliere, Anita Wischmeijer, et al.American Journal of Human Genetics|February 4, 2003
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2Marcella Zollino, Rosetta Lecce, Rita Fischetto, et al.American Journal of Human Genetics|December 9, 2004
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genesLuisa Russo, Paolo Mariotti, Eugenio Sangiorgi, et al.Investigative Ophthalmology & Visual Science|July 21, 2025
Deep Learning Model for Automated Classification of Macular Neovascularization Subtypes in AMDGiovanni Neri, Chiara Rebecchi, Jonathan D Oakley, et al.Human Molecular Genetics|November 26, 2004
Molecular dissection of the events leading to inactivation of the FMR1 geneRoberta Pietrobono, Elisabetta Tabolacci, Francesca Zalfa, et al.Nature Genetics|May 1, 2012
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotypeMarcella Zollino, Daniela Orteschi, Marina Murdolo, et al.Ophthalmology Science|July 9, 2026
Baseline Optical Coherence Tomography Biomarkers Associated with the 2-Year Development of Macular Atrophy or Fibrosis in Neovascular Age-related Macular DegenerationChiara Olivieri, Giacomo Perin, Xuenan Zhuang, et al.Journal of Human Genetics|September 1, 2017
Santos syndrome is caused by mutation in the WNT7A geneLeandro U Alves, Silvana Santos, Camila M Musso, et al.Biosensors|October 27, 2022
Emotion Recognition: Photoplethysmography and Electrocardiography in ComparisonSergio Rinella, Simona Massimino, Piero Giorgio Fallica, et al.Pageof 33