Detalhe da pesquisa
1.
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.
Int J Mol Sci
; 24(8)2023 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-37108493
2.
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
J Med Genet
; 58(9): 602-608, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32994279
3.
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.
Eur J Paediatr Neurol
; 31: 78-87, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-33667896
4.
Novel dominant distal titinopathy phenotype associated with copy number variation.
Ann Clin Transl Neurol
; 8(9): 1906-1912, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34312993
5.
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Genes (Basel)
; 12(8)2021 07 31.
Artigo
Inglês
| MEDLINE | ID: mdl-34440373
6.
Quantification of the spread of SARS-CoV-2 variant B.1.1.7 in Switzerland.
Epidemics
; 37: 100480, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34488035
7.
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
Neuromuscul Disord
; 30(11): 877-887, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33127292
8.
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.
J Mol Diagn
; 20(4): 465-473, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29689380
9.
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.
J Mol Diagn
; 20(4): 533-549, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29792937
10.
Structural plasticity among glutathione transferase Phi members: natural combination of catalytic residues confers dual biochemical activities.
FEBS J
; 284(15): 2442-2463, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28622459
11.
X-ray structures of Nfs2, the plastidial cysteine desulfurase from Arabidopsis thaliana.
Acta Crystallogr F Struct Biol Commun
; 70(Pt 9): 1180-5, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25195888
12.
Monothiol glutaredoxin-BolA interactions: redox control of Arabidopsis thaliana BolA2 and SufE1.
Mol Plant
; 7(1): 187-205, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24203231
13.
The poplar Phi class glutathione transferase: expression, activity and structure of GSTF1.
Front Plant Sci
; 5: 712, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25566286