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31-40 trong số 116 kết quả
A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium ...
Tác giả: Desiree M S Tse, Brian H Y Chung, Annie T W Chu
Xuất bản: England: Journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data
Tác giả: Meltem Ece Kars, David Stein, Yuval Itan, Peter D Stenson, David N Cooper, Wendy K Chung, Peter J Gruber, Christine E Seidman, Yufeng Shen, Martin Tristani-Firouzi, Bruce D Gelb
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
Genetic association studies using disease liabilities from deep neural networks
Tác giả: Lu Yang, Marie C Sadler, Russ B Altman
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  006.32
 
Characterizing substructure via mixture modeling in large-scale genetic summary statistics
Tác giả: Hayley R Stoneman, Adelle M Price, Katie M Marker, Audrey E Hendricks, Nikole Scribner Trout, Riley Lamont, Souha Tifour, Nikita Pozdeyev, Kristy Crooks, Meng Lin, Nicholas Rafaels, Christopher R Gignoux
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  003.71
 
Contribution of autosomal rare and de novo variants to sex differences in autism
Tác giả: Mahmoud Koko, F Kyle Satterstrom, Varun Warrier, Hilary Martin
Xuất bản: United States: American journal of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  155.33
 
Assessing the clinical value of day 7 blastocysts: a predictive model for preimplantation genetic testing for aneuploidy...
Tác giả: Andrea Abdala, Erkan Kalafat, Ibrahim Elkhatib, Aşina Bayram, Bariş Ata, Laura Melado, Barbara Lawrenz, Human M Fatemi, Daniela Nogueira
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc:  025.5
 
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:  782.296
 
An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansio...
Tác giả: Koen C Demaegd, Aoife Kernan, Patrick A Dion, Guy A Rouleau, Andrea Western, Paul J Parsons, Benjamin Mclean, Michael Benatar, Leonard H van den Berg, Philip Van Damme, Jan Willem Dankbaar, Jeroen Hendrikse, Johnathan Cooper-Knock, Wouter Koole, Charlotte de Bie, Esther Hobson, Jan H Veldink, Bart van de Warrenburg, R Jeroen Pasterkamp, Wouter van Rheenen, Janine Kirby, Pamela J Shaw, Michael A van Es, Joke J F A van Vugt, Calum Harvey, Tobias Moll, David O'Brien, Sarah Gornall, Luke Drury, Sali M K Farhan
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  959.3031
 
Balancing the rights of the pre-symptomatic child to be found with the risk of harm to others from the screening process
Tác giả: Anneke Lucassen, Rachel Horton
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  949.5074
 
Towards a patient-centred classification of genetic disease severity
Tác giả: Mojca Cizek Sajko, Lovro Vidmar, Bernarda Prosenc, Brigita Grum, Gordana Njenjic, Borut Peterlin
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  614.45
 

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