Detalhe da pesquisa
1.
Trio RNA sequencing in a cohort of medically complex children.
Am J Hum Genet
; 110(5): 895-900, 2023 05 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36990084
2.
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.
J Hum Genet
; 69(2): 101-105, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37904029
3.
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Am J Med Genet A
; 194(5): e63522, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38131126
4.
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
Am J Med Genet A
; 194(4): e63485, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38050708
5.
Coupled Palladium-Tungsten Bimetallic Nanosheets/TiO2 Hybrids with Enhanced Catalytic Activity and Stability for the Oxidative Removal of Benzene.
Environ Sci Technol
; 53(10): 5926-5935, 2019 05 21.
Artigo
Inglês
| MEDLINE | ID: mdl-31035751
6.
RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.
Am J Med Genet A
; 191(6): 1664-1668, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36995918
7.
RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.
Mol Genet Genomic Med
; 11(10): e2247, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37489014
8.
Repurposing non-antifungal drugs auranofin and pentamidine in combination as fungistatic antifungal agents against C. albicans.
Front Cell Infect Microbiol
; 12: 1065962, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36590591
9.
The implications of an integrated management model of prenatal diagnosis/postnatal treatment for premature infants with critical congenital heart disease-a case-control study.
Cardiovasc Diagn Ther
; 12(6): 868-879, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36605076
10.
Supramolecular Polymer Gel Lubricant with Excellent Mechanical Stability and Tribological Performances.
ACS Appl Mater Interfaces
; 14(40): 45934-45944, 2022 Oct 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36166403
11.
Effects of TiO2 doping on the performance of thermochemical energy storage based on Mn2O3/Mn3O4 redox materials.
RSC Adv
; 11(53): 33744-33758, 2021 Oct 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35497521
12.
The significance of an integrated management mode of prenatal diagnosis-postnatal treatment for critical congenital heart disease in newborns.
Cardiovasc Diagn Ther
; 11(2): 447-456, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33968622
13.
The Application of a Bone Marrow Mesenchymal Stem Cell Membrane in the Vascularization of a Decellularized Tracheal Scaffold.
Stem Cells Int
; 2021: 6624265, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33747094