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731-740 trong số 897 kết quả
Assessing the prevalence of unmet need for genetic counseling in Canada and exploring associations with sociodemographic...
Tác giả: Kennedy Borle, Jehannine Austin, Larry D Lynd
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  133.426
 
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectru...
Tác giả: María Carolina Sanabria-Salas, Ana Lucía Rivera-Herrera, Julián Riaño-Moreno, Rafael Parra-Medina, Juan Carlos Mejía, Luis G Carvajal-Carmona, María Carolina Manotas, Gonzalo Guevara, Ana Milena Gómez, Vilma Medina, Sandra Tapiero, Antonio Huertas, Marcela Nuñez, Miguel Zamir Torres
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  725.94
 
Re-reply to Sabbagh et al
Tác giả: Diane Van Opstal, Brigitte H W Faas
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  001.4
 
Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor ...
Tác giả: Snežana Hinić, Arjen R Mensenkamp, Nicoline Hoogerbrugge, Richarda M de Voer, Janneke H M Schuurs-Hoeijmakers, Fulvia Brugnoletti, Lilian Vreede, Elke M van Veen, Barend Mijzen, Rachel S van der Post, Maurizio Genuardi, Marjolijn J L Ligtenberg
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  070.194
 
Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
Tác giả: Noriko Miyake, Kentaro Shiga, Yukiko Imai, Noriyoshi Sakai, Tomonori Hirose, Atsushi Fujita, Hidehisa Takahashi, Nobuhiko Okamoto, Mikako Enokizono, Shiho Iwasaki, Shuichi Ito, Naomichi Matsumoto, Yuya Hasegawa, Chisato Iwabuchi, Kohei Shiroshita, Hiroshi Kobayashi, Keiyo Takubo, Fabien Velilla, Akiteru Maeno, Toshihiro Kawasaki
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  362.76
 
UBR4 should no longer be considered a candidate gene for episodic ataxia type 8
Tác giả: Susan Harvey, Mary D King, Sally Ann Lynch, Kathleen M Gorman
Xuất bản: England: European journal of human genetics : EJHG , 2025
Bộ sưu tập: NCBI
ddc:  133.5266
 
Self-Reported Access to Specialized Genetics Providers Among Families of Young Children With Birth Defects in Texas
Tác giả: Dayana Betancourt, Charles Shumate, Caitlyn Yantz, Henal Gandhi, Margaret Drummond-Borg, Christina Kubenka, Claire Singletary, Daniel Riconda, A J Agopian
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  004.678
 
Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connecti...
Tác giả: Olivia Abegglen, Shajanth Srikantharupan, Kathrin Zotter, Giulio Marcionelli, Timothée Ndarugendamwo, Pei Jin Lim, Cecilia Giunta, Christina Kaufman, Marianne Rohrbach
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  571.445
 
Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phe...
Tác giả: Sophie van Rijn, Kimberly Kuiper, Hanna Swaab
Xuất bản: United States: American journal of medical genetics. Part A , 2025
Bộ sưu tập: NCBI
ddc:  241.5
 
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:  220.404
 

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