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Journal of Clinical Medicine|July 27, 2022
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in FemalesAldesia Provenzano, Andrea La Barbera, Francesco Lai, et al.
International Journal of Endocrinology|February 17, 2015
Determinants of vitamin d levels in children and adolescents with down syndromeStefano Stagi, Elisabetta Lapi, Silvia Romano, et al.
Neuropediatrics|August 7, 2023
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of SpeechDaniela Formicola, Irina Podda, Marilena Pantaleo, et al.
Hormones (Athens, Greece)|November 18, 2014
Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseasesStefano Stagi, Cristina Manoni, Valentina Cirello, et al.
American Journal of Medical Genetics. Part A|May 2, 2013
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplicationCarla Marini, Antonella Cecconi, Elisa Contini, et al.
AJP Reports|March 13, 2018
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 MutationBarbara Piccini, Caterina Coviello, Livia Drovandi, et al.
European Journal of Medical Genetics|September 24, 2016
Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotypeBarbara Piccini, Rosangela Artuso, Lorenzo Lenzi, et al.
American Journal of Obstetrics and Gynecology|August 7, 2022
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studiesSilvia L Spinillo, Antonio Farina, Alexandros Sotiriadis, et al.
International Journal of Molecular Sciences|March 13, 2025
Association Between TP53 Mutations and Platinum Resistance in a Cohort of High-Grade Serous Ovarian Cancer Patients: Novel Implications for Personalized TherapeuticsClelia Madeddu, Eleonora Lai, Manuela Neri, et al.
Frontiers in Neuroscience|October 9, 2024
Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experienceDaniela Formicola, Irina Podda, Elia Dirupo, et al.
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