Detalhe da pesquisa
1.
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Prenat Diagn
; 42(7): 901-910, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35574990
2.
Sensing and responding to diverse extracellular signals: an updated analysis of the sensor kinases and response regulators of Streptomyces species.
Microbiology (Reading)
; 165(9): 929-952, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31334697
3.
Mechanistic insight into the repair of C8-linked pyrrolobenzodiazepine monomer-mediated DNA damage.
RSC Med Chem
; 13(12): 1621-1633, 2022 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36561066
4.
Diversification of DNA-Binding Specificity by Permissive and Specificity-Switching Mutations in the ParB/Noc Protein Family.
Cell Rep
; 32(3): 107928, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32698006
5.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Eur J Med Genet
; 63(10): 104004, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32688057
6.
Inhibiting the integrated stress response pathway prevents aberrant chondrocyte differentiation thereby alleviating chondrodysplasia.
Elife
; 72018 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30024379
7.
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
Hum Mol Genet
; 16(10): 1201-15, 2007 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17403716