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Clinical Genetics|December 21, 2024
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily PracticeGiovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, et al.
The Journal of Allergy and Clinical Immunology|October 5, 2023
Interim analysis: Open-label extension study of leniolisib for patients with APDSV Koneti Rao, Elaine Kulm, Anna Šedivá, et al.
Nature Genetics|October 11, 2016
Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiencyPaola G Bronson, Diana Chang, Tushar Bhangale, et al.
Sleep Medicine|April 9, 2014
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1Keivan Kaveh Moghadam, Fabio Pizza, Caterina Tonon, et al.
International Journal of Molecular Sciences|May 27, 2023
Multi-Gene Next-Generation Sequencing Panel for Analysis of BRCA1/BRCA2 and Homologous Recombination Repair Genes Alterations Metastatic Castration-Resistant Prostate CancerThais Maloberti, Antonio De Leo, Sara Coluccelli, et al.
Journal of Clinical Immunology|May 27, 2019
Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center StudyVassilios Lougaris, Annamaria Sorlini, Chiara Monfredini, et al.
Cancers|March 11, 2023
Characterization of BRCA Deficiency in Ovarian CancerGiovanna Barbero, Roberta Zuntini, Pamela Magini, et al.
The Journal of Experimental Medicine|January 11, 2012
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIPGaetana Lanzi, Daniele Moratto, Donatella Vairo, et al.
The Journal of Antimicrobial Chemotherapy|July 19, 2011
Use of linezolid in infants and children: a retrospective multicentre study of the Italian Society for Paediatric Infectious DiseasesSilvia Garazzino, Andrzej Krzysztofiak, Susanna Esposito, et al.
Blood|November 18, 2022
A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndromeV Koneti Rao, Sharon Webster, Anna Šedivá, et al.
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