Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
2.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
3.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med
; 26(5): 101076, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258669
4.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Am J Med Genet C Semin Med Genet
; 193(3): e32056, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37654076
5.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Genet Med
; 25(7): 100861, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37087635
6.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
7.
Impacts of genomics on the health and social costs of intellectual disability.
J Med Genet
; 57(7): 479-486, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31980565
8.
Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.
Am J Med Genet A
; 179(10): 2152-2157, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321886
9.
Characterisation of a pucBA deletion mutant from Rhodopseudomonas palustris lacking all but the pucBAd genes.
Photosynth Res
; 135(1-3): 9-21, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28567613
10.
Elemental distribution in developing rice grains and the effect of flag-leaf arsenate exposure.
Environ Exp Bot
; 149: 51-58, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100643
11.
Elementary Energy Transfer Pathways in Allochromatium vinosum Photosynthetic Membranes.
Biophys J
; 109(9): 1885-98, 2015 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26536265
12.
Characterisation of the LH2 spectral variants produced by the photosynthetic purple sulphur bacterium Allochromatium vinosum.
Biochim Biophys Acta
; 1837(11): 1849-1860, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25111749
13.
Antiviral Efficacy of a Respiratory Syncytial Virus (RSV) Fusion Inhibitor in a Bovine Model of RSV Infection.
Antimicrob Agents Chemother
; 59(8): 4889-900, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26055364
14.
The origin of the split B800 absorption peak in the LH2 complexes from Allochromatium vinosum.
Photosynth Res
; 123(1): 23-31, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25150556
15.
Ultra-broadband 2D electronic spectroscopy of carotenoid-bacteriochlorophyll interactions in the LH1 complex of a purple bacterium.
J Chem Phys
; 142(21): 212433, 2015 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26049453
16.
Inhibition of hepatitis C virus replication by GS-6620, a potent C-nucleoside monophosphate prodrug.
Antimicrob Agents Chemother
; 58(4): 1930-42, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24419349
17.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
medRxiv
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645094
18.
Carbonate weathering, phosphate fertilizer, and hydrologic controls on dissolved uranium in rivers in the US Corn Belt: Disentangling seasonal geogenic- and fertilizer-derived sources.
Sci Total Environ
; 861: 160455, 2023 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36435237
19.
Grain accumulation of selenium species in rice (Oryza sativa L.).
Environ Sci Technol
; 46(10): 5557-64, 2012 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22502742
20.
A review of recent developments in the speciation and location of arsenic and selenium in rice grain.
Anal Bioanal Chem
; 402(10): 3275-86, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22159463