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Human Mutation|May 15, 2025
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio, et al.
European Journal of Haematology|September 30, 1998
First line Fludarabine treatment of symptomatic chronic lymphoproliferative diseases: clinical results and molecular analysis of minimal residual diseaseM Clavio, M Miglino, M Spriano, et al.
Caries Research|May 15, 2016
Family-Based Genetic Association for Molar-Incisor HypomineralizationFabiano Jeremias, Ricardo A G Pierri, Juliana F Souza, et al.
International Journal of Cardiology|November 26, 2024
Differences between MINOCA and type 2 myocardial infarction: An ITALIAN observational studyAneta Aleksova, Alessandra Lucia Fluca, Milijana Janjusevic, et al.
Blood|October 24, 2002
CTLA-4 is not restricted to the lymphoid cell lineage and can function as a target molecule for apoptosis induction of leukemic cellsMaria Pia Pistillo, Pier Luigi Tazzari, Giulio Lelio Palmisano, et al.
American Journal of Medical Genetics. Part A|January 13, 2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defectsGerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, et al.
American Journal of Human Genetics|June 11, 2019
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile EncephalopathyBoris Fichtman, Tamar Harel, Nitzan Biran, et al.
Leukemia Research|July 29, 2011
Weekly standard doses of rh-EPO are highly effective for the treatment of anemic patients with low-intermediate 1 risk myelodysplastic syndromesEnrico Balleari, Marino Clavio, Eleonora Arboscello, et al.
Cellular and Molecular Gastroenterology and Hepatology|June 5, 2026
Loss of the mechanistic target of rapamycin complexes 1 (mTORC1) causes a lethal alpha-1 antitrypsin deficiency associated liver diseaseLisa Bewersdorf, Sophie Haber, Ines Volkert, et al.
JACC. Cardiovascular Interventions|September 22, 2014
Cerebrovascular events post-transcatheter aortic valve replacement in a large cohort of patients: a FRANCE-2 registry substudyDidier Tchetche, Bruno Farah, Leonardo Misuraca, et al.
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