scholarly journals Novel gene variants in patients with platelet‐based bleeding using combined exome sequencing and RNAseq murine expression data

2020 ◽  
Vol 19 (1) ◽  
pp. 262-268 ◽  
Author(s):  
Abdullah O. Khan ◽  
Rachel J. Stapley ◽  
Jeremy A. Pike ◽  
Susanne.N. Wijesinghe ◽  
Jasmeet S. Reyat ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Gene Variants ◽  
Expression Data ◽  
Novel Gene

scholarly journals Identification of Novel Gene variants in Patients with Alzheimer’s Disease by Whole Exome Sequencing

2020 ◽  
Vol 4 (1) ◽  
pp. 001-004
Author(s):  
Pan Xiaodong ◽  
Yang Murong ◽  
Xiang Jingjing ◽  
Pan Qi ◽  
Yang Menghao ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Gene Variants ◽  
Novel Gene ◽  
Whole Exome

Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones

2018 ◽  
Vol 37 (8) ◽  
pp. 1713-1721
Author(s):  
Lei He ◽  
Guofeng Xu ◽  
Xiaoliang Fang ◽  
Houwei Lin ◽  
Maosheng Xu ◽  
...  
Keyword(s):  
Primary Hyperoxaluria ◽  
Chinese Children ◽  
Urinary Stones ◽  
Gene Variants ◽  
Novel Gene

scholarly journals Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

2017 ◽  
Vol 27 (4) ◽  
pp. 614-624 ◽  
Author(s):  
Monika Weisz Hubshman ◽  
Sanne Broekman ◽  
Erwin van Wijk ◽  
Frans Cremers ◽  
Alaa Abu-Diab ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Novel Gene ◽  
Whole Exome

scholarly journals Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort

Thyroid ◽  
2016 ◽  
Vol 26 (9) ◽  
pp. 1215-1224 ◽  
Author(s):  
Christoffer Löf ◽  
Konrad Patyra ◽  
Teemu Kuulasmaa ◽  
Jagadish Vangipurapu ◽  
Henriette Undeutsch ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Gene Variants ◽  
Patient Cohort ◽  
Novel Gene ◽  
Finnish Patient

Whole exome sequencing identifies the novel putative gene variants related with type 2 diabetes in Mizo population, northeast India

Gene ◽  
2021 ◽  
Vol 769 ◽  
pp. 145229
Author(s):  
Freda Lalrohlui ◽  
John Zohmingthanga ◽  
Vanlal hruaii ◽  
Andrew Vanlallawma ◽  
Nachimuthu Senthil Kumar
Keyword(s):  
Type 2 Diabetes ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Northeast India ◽  
Gene Variants ◽  
The Novel ◽  
Putative Gene ◽  
Whole Exome

scholarly journals Exome Sequencing Identifies DLG1 as a Novel Gene for Potential Susceptibility to Crohn's Disease in a Chinese Family Study

PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e99807 ◽  
Author(s):  
Shufang Xu ◽  
Feng Zhou ◽  
Jinsheng Tao ◽  
Lu Song ◽  
Siew Chien NG ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Exome Sequencing ◽  
Family Study ◽  
Chinese Family ◽  
Novel Gene

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

2013 ◽  
Vol 50 (12) ◽  
pp. 802-811 ◽  
Author(s):  
Janneke H M Schuurs-Hoeijmakers ◽  
Anneke T Vulto-van Silfhout ◽  
Lisenka E L M Vissers ◽  
Ilse I G M van de Vondervoort ◽  
Bregje W M van Bon ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Gene Variants ◽  
Intellectually Disabled ◽  
Pathogenic Gene
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