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261-270 trong số 443 kết quả
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice
Tác giả: Jeanette Yuen, Siqin Zhou, Rebecca Caeser, Mallika Venkatramani, Diana Nur Bte Ishak, Shao-Tzu Li, Zewen Zhang, Jianbang Chiang, Sock Hoai Chan, Joanne Ngeow
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  553.453
 
Optimising the mainstreaming of renal genomics: Complementing empirical and theoretical strategies for implementation
Tác giả: Lin Cheng, Nathasha Kugenthiran, Catherine Quinlan, Zornitza Stark, Kushani Jayasinghe, Stephanie Best
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  577.22
 
Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovari...
Tác giả: Ed M Dicks, Jonthan P Tyrer, Toon Van Gorp, Anna De Fazio, David D L Bowtell, Dale W Garsed, Kunle Odunsi, Kirsten Moysich, Marina Pavanello, Florentia Fostira, Penelope M Webb, Jana Soukupová, Suzana Ezquina, Paul A Cohen, Weiva Sieh, Renée Turzanski Fortner, Charite Ricker, Beth Karlan, Ian Campbell, James D Brenton, Susan J Ramus, Simon A Gayther, Paul D P Pharoah, Michelle Jones, John Baierl, Pei-Chen Peng, Michael Diaz, Ellen Goode, Stacey J Winham, Thilo Dörk
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  001.944
 
Unique DUP-TRP/INV-DUP Structure Detected by Long-Read Sequencing
Tác giả: Rina Shimomura, Keiko Shimojima Yamamoto, Mutsuki Nakano, Takahiro Tayama, Tatsuo Mori, Eriko Nishi, Ken Inoue, Satoru Nagata, Nobuhiko Okamoto, Toshiyuki Yamamoto
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  364.253
 
A Mosaic Hotspot PLCD1 Variant, Detectable in Blood-Derived DNA, Associated With Nevus Trichilemmocysticus
Tác giả: Leanne de Kock, Macarena Nougues, Madeline Couse, Wendy Mears, Alison J Eaton, Kristin D Kernohan, Margarita Larralde, Kym M Boycott
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  296.1143
 
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliog...
Tác giả: David Haïm, Nathalie Roux, Sarah Vanlieferinghen, Sophie Thomas, Tania Attié-Bitach, Lucile Boutaud, Laure Verlin, Chloé Quélin, Candice Moncler, Nicolas Bourgon, Amale Achaiia, Philippe Roth, Pierre Marijon
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  004.618
 
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliog...
Tác giả: David Haïm, Amale Achaiia, Tania Attié-Bitach, Nicolas Bourgon, Lucile Boutaud, Pierre Marijon, Candice Moncler, Chloé Quélin, Philippe Roth, Nathalie Roux, Sophie Thomas, Sarah Vanlieferinghen, Laure Verlin
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  004.618
 
Efficacy of Transitioning from Alglucosidase Alfa to Avalglucosidase Alfa in Infantile-Onset Pompe Disease: A Single-Cen...
Tác giả: Yin-Hsuan Chien, Hui-An Chen, Rai-Hseng Hsu, Chien-Hua Yeh, Ching-Ya Fang, Ni-Chung Lee, Wuh-Liang Hwu, Yin-Hsiu Chien
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  636.0885
 
Feasibility of Using Patient Navigation to Improve Identification of Hereditary Cancer Syndromes in Newly Diagnosed Colo...
Tác giả: Emma Sears, Jacky Dahlquist, Sarah Stayman, Cynthia Ko, Eric Q Konnick, Allison Cole, Ying Zhang, Marlana Kohn, Vida Henderson, Sarah Knerr
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  306.4846
 
Diamonds in the rif: Alignment-free comparative genomics analysis reveals strain-transcendent Plasmodium falciparum anti...
Tác giả: Jonathan G Lawton, Albert E Zhou, Emily M Stucke, Shannon Takala-Harrison, Joana C Silva, Mark A Travassos
Xuất bản: Netherlands: Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases , 2025
Bộ sưu tập: NCBI
ddc:  070.48346
 

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