Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Hum Mutat
; 42(4): 373-377, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33492714
3.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Clin Genet
; 100(3): 329-333, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037256
4.
LARS2-Perrault syndrome: a new case report and literature review.
BMC Med Genet
; 21(1): 109, 2020 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32423379
5.
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
Am J Med Genet A
; 182(9): 2129-2132, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627382
6.
Detecting patterns of species diversification in the presence of both rate shifts and mass extinctions.
BMC Evol Biol
; 15: 157, 2015 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26260305
7.
The 2021 WHO catalogue of Mycobacterium tuberculosis complex mutations associated with drug resistance: A genotypic analysis.
Lancet Microbe
; 3(4): e265-e273, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373160
8.
MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination.
Ann Clin Transl Neurol
; 7(1): 121-125, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31846234
9.
Genome sequencing of Mycobacterium tuberculosis clinical isolates revealed isoniazid resistance mechanisms undetected by conventional molecular methods.
Int J Antimicrob Agents
; 56(2): 106068, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32603684
10.
NGS-Based S. aureus Typing and Outbreak Analysis in Clinical Microbiology Laboratories: Lessons Learned From a Swiss-Wide Proficiency Test.
Front Microbiol
; 11: 591093, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33424794
11.
No evidence for the radiation time lag model after whole genome duplications in Teleostei.
PLoS One
; 12(4): e0176384, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28426792
12.
Genomics of the new species Kingella negevensis: diagnostic issues and identification of a locus encoding a RTX toxin.
Microbes Infect
; 19(11): 546-552, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28802585