Detalhe da pesquisa
1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669495
2.
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Brain
; 146(8): 3528-3541, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732302
3.
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
Hum Genet
; 142(3): 379-397, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36538041
4.
Efficacy of single and multiple oral doses of fosfomycin against Pseudomonas aeruginosa urinary tract infections in a dynamic in vitro bladder infection model.
J Antimicrob Chemother
; 75(7): 1879-1888, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32361749
5.
Impact of bacterial species and baseline resistance on fosfomycin efficacy in urinary tract infections.
J Antimicrob Chemother
; 75(4): 988-996, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31873748
6.
A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.
Eur J Paediatr Neurol
; 35: 35-39, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34592644
7.
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.
Eur J Paediatr Neurol
; 35: 27-34, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34592643
8.
Zebrafish macrophage developmental arrest underlies depletion of microglia and reveals Csf1r-independent metaphocytes.
Elife
; 92020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367800