175 related articles for article (PubMed ID: 34020649)
1. The identification of novel gene mutations for degenerative lumbar spinal stenosis using whole-exome sequencing in a Chinese cohort.
Jiang X; Chen D
BMC Med Genomics; 2021 May; 14(1):134. PubMed ID: 34020649
[TBL] [Abstract][Full Text] [Related]
2. Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.
Min BJ; Kang YK; Chung YG; Seo ME; Chang KB; Joo MW
Clin Orthop Relat Res; 2020 Nov; 478(11):2442-2450. PubMed ID: 32281771
[TBL] [Abstract][Full Text] [Related]
3. Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
Amiri-Yekta A; Coutton C; Kherraf ZE; Karaouzène T; Le Tanno P; Sanati MH; Sabbaghian M; Almadani N; Sadighi Gilani MA; Hosseini SH; Bahrami S; Daneshipour A; Bini M; Arnoult C; Colombo R; Gourabi H; Ray PF
Hum Reprod; 2016 Dec; 31(12):2872-2880. PubMed ID: 27798045
[TBL] [Abstract][Full Text] [Related]
4. Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction.
Zhou Y; Qian Z; Yang J; Zhu M; Hou X; Wang Y; Wu H; Zou J
Mol Med Rep; 2018 May; 17(5):7325-7330. PubMed ID: 29568952
[TBL] [Abstract][Full Text] [Related]
5. Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
Bestetti I; Barbieri C; Sironi A; Specchia V; Yatsenko SA; De Donno MD; Caslini C; Gentilini D; Crippa M; Larizza L; Marozzi A; Rajkovic A; Toniolo D; Bozzetti MP; Finelli P
Hum Reprod; 2021 Oct; 36(11):2975-2991. PubMed ID: 34480478
[TBL] [Abstract][Full Text] [Related]
6. Socioeconomic and physical characteristics of individuals with degenerative lumbar spinal stenosis.
Abbas J; Hamoud K; May H; Peled N; Sarig R; Stein D; Alperovitch-Najemson D; Hershkovitz I
Spine (Phila Pa 1976); 2013 Apr; 38(9):E554-61. PubMed ID: 24477055
[TBL] [Abstract][Full Text] [Related]
7. Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder.
Kim N; Kim KH; Lim WJ; Kim J; Kim SA; Yoo HJ
Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33374967
[TBL] [Abstract][Full Text] [Related]
8. Identification of potential causal variants for premature ovarian failure by whole exome sequencing.
Jin H; Ahn J; Park Y; Sim J; Park HS; Ryu CS; Kim NK; Kwack K
BMC Med Genomics; 2020 Oct; 13(1):159. PubMed ID: 33109206
[TBL] [Abstract][Full Text] [Related]
9. Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma.
Xiao X; Huang C; Cao Y; Chen S; Xu Y; Chen H; Pang C; Zhang M
Invest Ophthalmol Vis Sci; 2019 Oct; 60(13):4277-4284. PubMed ID: 31618764
[TBL] [Abstract][Full Text] [Related]
10. Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing.
Chen S; Jin Q; Hou S; Li M; Zhang Y; Guan L; Pan W; Ge J; Zhou D
Hum Genomics; 2022 Sep; 16(1):36. PubMed ID: 36071494
[TBL] [Abstract][Full Text] [Related]
11. Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.
Tada H; Kawashiri MA; Nohara A; Saito R; Tanaka Y; Nomura A; Konno T; Sakata K; Fujino N; Takamura T; Inazu A; Mabuchi H; Yamagishi M; Hayashi K
Atherosclerosis; 2015 Jun; 240(2):324-9. PubMed ID: 25875382
[TBL] [Abstract][Full Text] [Related]
12. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
Chen MJ; Wei SY; Yang WS; Wu TT; Li HY; Ho HN; Yang YS; Chen PL
Hum Reprod; 2015 Jul; 30(7):1732-42. PubMed ID: 25924657
[TBL] [Abstract][Full Text] [Related]
13. Whole exome sequencing in recurrent early pregnancy loss.
Qiao Y; Wen J; Tang F; Martell S; Shomer N; Leung PC; Stephenson MD; Rajcan-Separovic E
Mol Hum Reprod; 2016 May; 22(5):364-72. PubMed ID: 26826164
[TBL] [Abstract][Full Text] [Related]
14. [Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].
Liu XZ; Li YY; Yang LP
Beijing Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 52(5):836-844. PubMed ID: 33047716
[TBL] [Abstract][Full Text] [Related]
15. Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.
Bradshaw G; Lualhati RR; Albury CL; Maksemous N; Roos-Araujo D; Smith RA; Benton MC; Eccles DA; Lea RA; Sutherland HG; Haupt LM; Griffiths LR
Front Immunol; 2018; 9():420. PubMed ID: 29556235
[TBL] [Abstract][Full Text] [Related]
16. Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients.
Zehravi M; Wahid M; Ashraf J; Fatima T
Genet Test Mol Biomarkers; 2021 Mar; 25(3):218-226. PubMed ID: 33734897
[No Abstract] [Full Text] [Related]
17. Specific genetic aberrations of parathyroid in Chinese patients with tertiary hyperparathyroidism using whole-exome sequencing.
Li L; Sheng Q; Zeng H; Li W; Wang Q; Ma G; Xu X; Qiu M; Zhang W; Shan C
Front Endocrinol (Lausanne); 2023; 14():1221060. PubMed ID: 37854190
[TBL] [Abstract][Full Text] [Related]
18. Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise.
Landstrom AP; Fernandez E; Rosenfeld JA; Yang Y; Dailey-Schwartz AL; Miyake CY; Allen HD; Penny DJ; Kim JJ
Heart Rhythm; 2018 Jul; 15(7):1042-1050. PubMed ID: 29501670
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel MYO6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing.
Tian T; Lu Y; Yao J; Cao X; Wei Q; Li Q
Genes Genet Syst; 2018 Dec; 93(5):171-179. PubMed ID: 30175721
[TBL] [Abstract][Full Text] [Related]
20. Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).
Liu Y; Cao Y; Li Y; Lei D; Li L; Hou ZL; Han S; Meng M; Shi J; Zhang Y; Wang Y; Niu Z; Xie Y; Xiao B; Wang Y; Li X; Yang L; Wang W; Jiang L
Med Sci Monit; 2018 Mar; 24():1340-1358. PubMed ID: 29505555
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]