Detalhe da pesquisa
1.
PQN-59 antagonizes microRNA-mediated repression during post-embryonic temporal patterning and modulates translation and stress granule formation in C. elegans.
PLoS Genet
; 17(11): e1009599, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34807903
2.
Interpreting variants in genes affected by clonal hematopoiesis in population data.
Hum Genet
; 2023 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739343
3.
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
4.
Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder.
Genomics
; 113(4): 1895-1905, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33862179
5.
Expanding the KIF4A-associated phenotype.
Am J Med Genet A
; 185(12): 3728-3739, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346154
6.
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(3): 453-461, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31732716
7.
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
Am J Med Genet A
; 182(8): 1923-1932, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506774
8.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
9.
Brief, Resolved, Unexplained Events Explained in a Two-month Old Infant.
J Pediatr
; : 114127, 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815744
10.
Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.
Am J Med Genet A
; 179(5): 792-796, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773818
11.
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
Am J Med Genet A
; 176(4): 945-950, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575629
12.
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Hum Mutat
; 38(5): 517-523, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28229513
13.
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
Am J Med Genet A
; 173(10): 2622-2627, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742285
14.
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Am J Med Genet A
; 173(11): 3022-3028, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28941052
15.
Delayed environmental enrichment reverses sevoflurane-induced memory impairment in rats.
Anesthesiology
; 116(3): 586-602, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22354242
16.
Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome.
Mol Syndromol
; 13(4): 337-342, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36158056
17.
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
JIMD Rep
; 43: 103-109, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29923089