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The New England Journal of Medicine|July 31, 2009
AGC1 deficiency associated with global cerebral hypomyelinationRolf Wibom, Francesco M Lasorsa, Virpi Töhönen, et al.
Genes|October 21, 2017
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal DystrophiesValentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, et al.
Asian Cardiovascular & Thoracic Annals|October 21, 2024
Impact of preoperative computed tomography scan on neurological outcomes in coronary artery bypass grafting patients: A propensity-score analysisMariano Cefarelli, Pietro Giorgio Malvindi, Olimpia Bifulco, et al.
Inorganic Chemistry|October 1, 2024
Radiochemistry and Complex Formation of the Cyclen-Derived Chelator DOTI-Me with Mn<sup>2+</sup>, Cu<sup>2+</sup>, Zn<sup>2+</sup>, Ga<sup>3+</sup>, In<sup>3+</sup>, Tb<sup>3+</sup>, and Lu<sup>3</sup>Ina Hierlmeier, Nadia Marino, Moritz-Valentin Schreck, et al.
Children (Basel, Switzerland)|February 25, 2022
Association between Coagulation Profile and Clinical Outcome in Children with SARS-CoV-2 Infection or MIS-C: A Multicenter Cross-Sectional StudyDanilo Buonsenso, Francesco Mariani, Luca Pierri, et al.
Oncology Reports|September 6, 2005
Ifosfamide, epirubicin, etoposide (IEV) and autologous peripheral blood progenitor cell transplant: a feasible and effective salvage treatment for lymphoid malignanciesMarino Clavio, Alberto Garrone, Ivana Pierri, et al.
Molecular Genetics and Metabolism|May 27, 2018
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapySuhail Khoja, Matt Nitzahn, Kip Hermann, et al.
Investigative Ophthalmology & Visual Science|July 1, 2021
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal StudyFrancesco Testa, Andrea Sodi, Sabrina Signorini, et al.
Journal of Inherited Metabolic Disease|February 7, 2019
Hepatic glutamine synthetase augmentation enhances ammonia detoxificationLeandro R Soria, Matthew Nitzahn, Angela De Angelis, et al.
Plant Physiology and Biochemistry : PPB|November 30, 2020
Targeting mitochondrial metabolite transporters in Penicillium expansum for reducing patulin productionVincenzo Tragni, Pietro Cotugno, Anna De Grassi, et al.
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