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1.
A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.
Am J Med Genet A
; 191(6): 1565-1569, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36810952
2.
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort.
Int J Mol Sci
; 24(3)2023 Jan 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36768812
3.
Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review.
Int J Mol Sci
; 22(18)2021 Sep 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-34576040
4.
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.
Circ J
; 80(4): 938-49, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26960954
5.
Spontaneous coronary artery dissection: review, case report and analysis of COVID-19-related cases.
Minerva Cardiol Angiol
; 2023 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36847436
6.
Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.
Muscle Nerve
; 55(6): E24-E25, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27639085
7.
Case Report: Crossing a rugged road in a primary immune regulatory disorder.
Front Pediatr
; 10: 1055091, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36699297
8.
Variants in MHY7 Gene Cause Arrhythmogenic Cardiomyopathy.
Genes (Basel)
; 12(6)2021 05 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-34067482
9.
Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants.
J Clin Med
; 10(21)2021 Oct 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-34768595
10.
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
Clin Chim Acta
; 501: 154-164, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-31730815
11.
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Front Immunol
; 10: 316, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31031743
12.
Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Front Immunol
; 10: 1184, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31214169
13.
JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene.
Mol Genet Genomic Med
; 6(5): 713-721, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30032486
14.
Targeted Next Generation Sequencing in patients with Myotonia Congenita.
Clin Chim Acta
; 470: 1-7, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28427807
15.
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 αß+ T and B Cells.
Front Immunol
; 8: 1893, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29312354
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