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Human Mutation|February 27, 2009
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional studyAlessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi-Vici, et al.
Hemasphere|January 14, 2026
Application of machine learning in the diagnostic work-up of telomere biology disordersErika Massaccesi, Luca Arcuri, Giacomo Cavalca, et al.
The Journal of Pediatrics|September 24, 2020
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology DisordersRyan W Himes, Eric H Chiou, Karen Queliza, et al.
The Journal of Clinical Investigation|January 4, 2021
Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomasNivea Dias Amoedo, Saharnaz Sarlak, Emilie Obre, et al.
American Journal of Hematology|October 15, 2013
Long term outcome of Ph+ CML patients achieving complete cytogenetic remission with interferon based therapy moving from interferon to imatinib eraMichele Malagola, Massimo Breccia, Cristina Skert, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeFrancesca Piceci-Sparascio, Lucia Micale, Barbara Torres, et al.
Nature Metabolism|June 10, 2024
ASS1 metabolically contributes to the nuclear and cytosolic p53-mediated DNA damage responseLisha Qiu Jin Lim, Lital Adler, Emma Hajaj, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2007
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome regionJonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, et al.
European Journal of Human Genetics : EJHG|March 15, 2013
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defectsCorry M R Weemaes, Maarten J D van Tol, Jun Wang, et al.
International Journal of Molecular Sciences|February 26, 2022
Loss of Detection of sgN Precedes Viral Abridged Replication in COVID-19-Affected Patients-A Target for SARS-CoV-2 PropagationVeronica Ferrucci, Pasqualino de Antonellis, Fabrizio Quarantelli, et al.
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