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American Journal of Medical Genetics. Part A|September 30, 2016
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutationFabio Acquaviva, Maria Elena Sana, Matteo Della Monica, et al.
International Journal of Molecular Sciences|September 3, 2020
Aldo-Keto Reductase 1C1 (<i>AKR1C1</i>) as the First Mutated Gene in a Family with Nonsyndromic Primary LipedemaSandro Michelini, Pietro Chiurazzi, Valerio Marino, et al.
Molecular Genetics & Genomic Medicine|April 20, 2026
A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature ReviewElia Marco Paolo Minale, Stefania Martone, Chiara Criscuolo, et al.
Nucleic Acids Research|January 29, 2016
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAsMarianthi Karali, Maria Persico, Margherita Mutarelli, et al.
Plos One|November 19, 2013
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF)Michele Pinelli, Fabio Acquaviva, Fabrizio Barbetti, et al.
European Journal of Human Genetics : EJHG|April 3, 2019
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled femalesMarcello Scala, Annalaura Torella, Mariasavina Severino, et al.
Plos One|September 30, 2017
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic dietGerarda Cappuccio, Michele Pinelli, Marianna Alagia, et al.
European Journal of Medical Genetics|September 5, 2017
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorderGerarda Cappuccio, Marianna Alagia, Mariangela D'Anna, et al.
Human Genomics|November 6, 2024
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing dataFerdinando Bonfiglio, Andrea Legati, Vito Alessandro Lasorsa, et al.
Nucleic Acids Research|May 29, 2016
An atlas of gene expression and gene co-regulation in the human retinaMichele Pinelli, Annamaria Carissimo, Luisa Cutillo, et al.
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