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131-140 trong số 202 kết quả
A CADASIL NOTCH3 mutation leads to clonal hematopoiesis and expansion of Dnmt3a-R878H hematopoietic clones
Tác giả: Raúl Sánchez-Lanzas, Justin Barclay, Alexandros Hardas, Foteini Kalampalika, Amanda Jiménez-Pompa, Paolo Gallipoli, Miguel Ganuza
Xuất bản: England: Leukemia , 2025
Bộ sưu tập: NCBI
ddc:  612.664
 
Heterozygous COL11A1 mutation associated with congenital cataract, lens subluxation, and zonular loss
Tác giả: Gabriela G Lee, Sugi Panneerselvam, Ta Chen Peter Chang
Xuất bản: England: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie , 2025
Bộ sưu tập: NCBI
ddc:  346.06
 
EGFR mutation status affects intra-tumoural heterogeneity of PD-L1 expression but not agreement between assays in resectable non-small cell lung cancer
Tác giả: Stephanie P L Saw, Mei-Kim Ang, Nwe Oo Hlaing, Amit Jain, Anne James, Craig Joseph, Ravindran Kanesvaran, Gillianne G Y Lai, Darren W T Lim, Tony K H Lim, Quan Sing Ng, Boon-Hean Ong, Angela Takano, Aaron C Tan, Daniel S W Tan, Sze Huey Tan, Wan Ling Tan, Yi Lin Teh, Joe P S Yeong, Siqin Zhou
Xuất bản: Ireland: Lung cancer (Amsterdam, Netherlands , 2025
Bộ sưu tập: NCBI
ddc:  025.1
 
Point Mutation Analysis of the Drug Efflux Pump MexB in Clinical Isolates of Pseudomonas aeruginosa
Tác giả: Seiji Yamasaki, Mitsuko Hayashi-Nishino, Naoki Koga, Ryosuke Nakashima, Kunihiko Nishino
Xuất bản: Japan: Biological & pharmaceutical bulletin , 2025
Bộ sưu tập: NCBI
ddc:  658.1552
 
Cancer-associated mutation at glycine 400 in TIP60 disrupt its phase separation property and catalytic activity resulting in compromised DNA damage repair function of the cell
Tác giả: Himanshu Gupta, Ashish Gupta, Ashutosh Singh
Xuất bản: United States: Biochemical and biophysical research communications , 2025
Bộ sưu tập: NCBI
ddc:  368.56
 
A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families
Tác giả: Ansar Hussain, Musavir Abbas, Tanveer Abbas, Nisar Ahmed, Imtiaz Ali, Khalid Khan, Muzammil Ahmad Khan, Hui Ma, Ghulam Mustafa, Fazal Rahim, Yousaf Raza, Wasim Shah, Qing-Hua Shi, Meftah Uddin, Nadeem Ullah, Bo Yang, Aurang Zeb, Huan Zhang, Muhammad Zubair
Xuất bản: China: Asian journal of andrology , 2025
Bộ sưu tập: NCBI
ddc:  302.222
 
A novel homozygous splicing mutation in AK7 associated with multiple morphological abnormalities of the sperm flagella
Tác giả: Thomas Greither, Holger Herlyn
Xuất bản: China: Asian journal of andrology , 2025
Bộ sưu tập: NCBI
ddc:  302.222
 
A premature termination codon mutation in the onion
Tác giả: Pengzheng Lei, Meihong Pan, Weiya Li, Shilin Zhang, Linchong Hui, Jing Cai, Shiqiang Kang, Peng Zeng, Yu Ma, Yingmei Peng, Xiushan Ma, Wei Chen, Linyu He, Haifeng Yang
Xuất bản: England: Horticulture research , 2025
Bộ sưu tập: NCBI
ddc:  891.819
 
Increased mitochondrial mutation heteroplasmy induces aging phenotypes in pluripotent stem cells and their differentiated progeny
Tác giả: Amy R Vandiver, Alejandro Torres, Amberly Sanden, Thang L Nguyen, Jasmine Gasilla, Mary T Doan, Vahan Martirosian, Austin Hoang, Jonathan Wanagat, Michael A Teitell
Xuất bản: England: Aging cell , 2025
Bộ sưu tập: NCBI
ddc:  553.453
 
Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease)
Tác giả: Manisha Gupta, Thuppanattumadam A Sangeeth, Ramya Sukrutha, Gautham A Udupi, Rashmi S Kumar, Nandeesh B Nanjegowda, Girish B Kulkarni
Xuất bản: India: Annals of Indian Academy of Neurology , 2025
Bộ sưu tập: NCBI
ddc:  302.222
 

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