Suchergebnisse - "Ferradini, Valentina"

PubPharm (20)

11

Corrigendum : Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

enthalten in: Frontiers in immunology | 2019

von Cifaldi, C. | Brigida, I. | Barzaghi, F. | +37

ErratumFor: Front Immunol. 2019 Apr 11;10:316. - PMID 31031743

12

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

enthalten in: Frontiers in immunology | 2019

von Cifaldi, C. | Brigida, I. | Barzaghi, F. | +37

ErratumIn: Front Immunol. 2019 May 31;10:1184. - PMID 31214169

13

JAK3 mutations in Italian patients affected by SCID : New molecular aspects of a long-known gene

enthalten in: Molecular genetics & genomic medicine | 2018

von Di Matteo, G. | Chiriaco, M. | Scarselli, A. | +8

14

Targeted Next Generation Sequencing in patients with Myotonia Congenita

enthalten in: Clinica chimica acta; international journal of clinical chemistry | 2017

von Ferradini, V. | Cassone, M. | Nuovo, S. | +5

15

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia

enthalten in: Muscle & nerve | 2017

von Cassone, M. | Ferradini, V. | Longo, G. | +7

16

Novel X-Linked Inhibitor of Apoptosis Mutation in Very Early-Onset Inflammatory Bowel Disease Child Successfully Treated with HLA-Haploidentical Hemapoietic Stem Cells Transplant after Removal of αβ+ T and B Cells

enthalten in: Frontiers in immunology | 2017

von Cifaldi, C. | Chiriaco, M. | Di Matteo, G. | +12

17

Genotype–phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia

enthalten in: Muscle & nerve | 2017

von Cassone, M. | Ferradini, V. | Longo, G. | +7

18

Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome

enthalten in: Circulation journal : official journal of the Japanese Circulation Society | 2016

von Mango, R. | Luchetti, A. | Sangiuolo, R. | +8

CommentIn: Front Physiol. 2017 Dec 12;8:1056. - PMID 29311983

19

Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome

enthalten in: Circulation journal | 2016

von Mango, R. | Luchetti, A. | Sangiuolo, R. | +8

20

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia

enthalten in: Muscle & nerve | 2016

von Cassone, M. | Ferradini, V. | Longo, G. | +7