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The Journal of Biological Chemistry|October 9, 2015
Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor SpecificitiesElisabeth Losdyck, Tekla Hornakova, Lorraine Springuel, et al.
Diagnostics (Basel, Switzerland)|October 27, 2022
3'UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male FetusMaria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, et al.
Clinical Genetics|February 9, 2023
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndromeChiara Leoni, Germana Viscogliosi, Roberta Onesimo, et al.
Human Mutation|October 1, 2003
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of FallotAntonio Pizzuti, Anna Sarkozy, Anthea L Newton, et al.
Orphanet Journal of Rare Diseases|January 23, 2021
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment statusChiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, et al.
Clinical Genetics|December 23, 2020
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disordersRebeca Lorca, Luca Pannone, Elías Cuesta-Llavona, et al.
Diabetes|August 27, 2005
The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from ItalySabrina Prudente, Marta Letizia Hribal, Elisabetta Flex, et al.
European Journal of Medical Genetics|February 1, 2022
Metabolic profiling of Costello syndrome: Insights from a single-center cohortChiara Leoni, Miriam Massese, Jacopo Gervasoni, et al.
American Journal of Medical Genetics. Part A|December 16, 2021
Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4-year follow-up studyChiara Leoni, Cristian Bisanti, Germana Viscogliosi, et al.
Cells|November 27, 2021
DNMT3A and DNMT3B Targeting as an Effective Radiosensitizing Strategy in Embryonal RhabdomyosarcomaSimona Camero, Giulia Vitali, Paola Pontecorvi, et al.
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