Loại tài liệu:    Chỉ tìm trong: 
21-30 trong số 34 kết quả
The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture
Tác giả: Benjamin G Faber, Monika Frysz, Nicholas C Harvey, Claudia Lindner, Timothy Cootes, David M Evans, George Davey Smith, Xin Gao, Sijia Wang, John P Kemp, Jonathan H Tobias, Jaiyi Zheng, Huandong Lin, Kaitlyn A Flynn, Raja Ebsim, Fiona R Saunders, Rhona Beynon, Jennifer S Gregory, Richard M Aspden
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  005.115
 
Dysregulation of alternative splicing is a transcriptomic feature of patient-derived fibroblasts from CAG repeat expansi...
Tác giả: Asmer Aliyeva, Claudia D Lennon, John D Cleary, Hannah K Shorrock, J Andrew Berglund
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  261.836
 
Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain contex...
Tác giả: Samantha Peeters, Sarah Baldry, Carolyn J Brown, Andrea J Korecki, Elizabeth M Simpson, Aditi Srinivasan, Wyeth W Wasserman
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  522.29
 
Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA deplet...
Tác giả: Benjamin Munro, Declan Hines, Rita Horvath, Juliane S Mueller
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  616.21
 
Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations ...
Tác giả: Rei Yasuda, Brigitte Dauwalder, Hirokazu Hashimoto, Oguz Kanca, Toshiki Mizuno, Jung-Wan Mok, Mikiko Oka, Marium Waqar, Shinya Yamamoto
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  515.23
 
Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba del...
Tác giả: Glenn Belinsky, Chandra Sekhar Boddupalli, Nima Fattahi, Sameet Mehta, Pramod K Mistry, Shiny Nair, Jiapeng Ruan
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  296.182
 
Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disea...
Tác giả: Eun-Young Choi, John H Wolfe, Stephen G Kaler
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  273.1
 
Non-canonical imprinting, manifesting as post-fertilization placenta-specific parent-of-origin dependent methylation, is...
Tác giả: Dagne Daskeviciute, Louise Chappell-Maor, David Monk, Becky Sainty, Philippe Arnaud, Isabel Iglesias-Platas, Carlos Simon, Hiroaki Okae, Takahiro Arima, Rita Vassena, Jon Lartey
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  220.12
 
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased...
Tác giả: Anna Prizment, Abby Standafer, Daniel D Buchanan, Robert C Grant, Stephanie L Schmit, Elizabeth A Platz, Corinne E Joshu, David J Couper, Ulrike Peters, Timothy K Starr, Patricia Scott, Nathan Pankratz, Conghui Qu, Kathleen M Beutel, Shuo Wang, Wen-Yi Huang, Annika Lindblom, Rachel Pearlman, Bethany Van Guelpen, Alicja Wolk
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  005.114
 
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy
Tác giả: Franziska Langhammer, Anne Gregor, Niels R Ntamati, Arif B Ekici, Beate Winner, Thomas Nevian, Christiane Zweier
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  220.12
 

Truy cập nhanh danh mục