Detalhe da pesquisa
1.
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Am J Hum Genet
; 111(1): 70-81, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091987
2.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature
; 586(7831): 757-762, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057194
3.
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
Am J Hum Genet
; 105(6): 1274-1285, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31785789
4.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 101(2): 239-254, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777931
5.
Mobile element insertion detection in 89,874 clinical exomes.
Genet Med
; 22(5): 974-978, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31965078
6.
Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.
Hered Cancer Clin Pract
; 17: 19, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31341520
7.
The accessible chromatin landscape of the human genome.
Nature
; 489(7414): 75-82, 2012 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22955617
8.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 102(4): 713, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625026
9.
Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity.
Genome Res
; 21(10): 1757-67, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750106
10.
Unlocking the Therapeutic Potential of LncRNA BLACAT1 in Hypopharynx Squamous Cell Carcinoma.
Discov Med
; 36(182): 546-558, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531795
11.
Tribological Properties of Polyimide Composites Modified with Diamondoid Metal-Organic Frameworks.
Polymers (Basel)
; 16(6)2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38543410
12.
A Disentangled Representation Based Brain Image Fusion via Group Lasso Penalty.
Front Neurosci
; 16: 937861, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35924221
13.
Claudin-1/4 as directly target gene of HIF-1α can feedback regulating HIF-1α by PI3K-AKT-mTOR and impact the proliferation of esophageal squamous cell though Rho GTPase and p-JNK pathway.
Cancer Gene Ther
; 29(6): 665-682, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34276052
14.
PHF20 inhibition promotes apoptosis and cisplatin chemosensitivity via the OCT4pSTAT3MCL1 signaling pathway in hypopharyngeal squamous cell carcinoma.
Int J Oncol
; 59(1)2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33982773
15.
Orientational dynamics of water in phospholipid bilayers with different hydration levels.
J Phys Chem B
; 113(21): 7676-80, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19413360
16.
Energetics of cholesterol transfer between lipid bilayers.
J Phys Chem B
; 112(12): 3807-11, 2008 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-18307337
17.
Molecular dynamics simulations of bilayers containing mixtures of sphingomyelin with cholesterol and phosphatidylcholine with cholesterol.
J Phys Chem B
; 111(44): 12888-97, 2007 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-17941659
18.
Heartbeat classification using disease-specific feature selection.
Comput Biol Med
; 46: 79-89, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24529208
19.
Generalized locality preserving Maxi-Min Margin Machine.
Neural Netw
; 36: 18-24, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23037772
20.
Molecular dynamics simulations of SOPS and sphingomyelin bilayers containing cholesterol.
Biophys J
; 92(4): 1284-95, 2007 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17142272