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101-110 trong số 176 kết quả
Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk
Tác giả: Marya S Sabir, Mary B Makarious, Marjan Huizing, William A Gahl, Frances M Platt, May Christine V Malicdan
Xuất bản: England: Parkinsonism & related disorders , 2025
Bộ sưu tập: NCBI
ddc:  553.421
 
Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish
Tác giả: María José Ariza, Inmaculada Coca-Prieto, Luis Antonio Álvarez-Sala, Liliana Gutiérrez-Carrasquilla, Justo Sánchez-Gil, Mónica Domènech, Andrés González-Jiménez, María José Benítez-Toledo, Javier Espíldora-Hernández, Emilio Ortega-Martínez de Victoria, Miguel Ángel Sánchez-Chaparro, Pedro Valdivielso, José Rioja, Ovidio Muñiz-Grijalvo, Daniel Zambón-Rados, Agustín Blanco-Echevarría, Teresa Arrobas-Velilla, Javier Delgado-Lista, David León-Jiménez, Marta Casañas-Martínez
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  611.01816
 
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report
Tác giả: Chunyuan Song, Kehua Wang, Ling Li, Luping Hu, Jie Bai, Lin Zhao, Chang Liu, Shaowei Li
Xuất bản: England: Ophthalmic genetics , 2025
Bộ sưu tập: NCBI
ddc:  544
 
Detection of single nucleotide variants in the mitochondrial genome of healthy mice and humans
Tác giả: Alfredo Varela-Echavarría, Kenya L Contreras-Ramírez, Carlos Lozano-Flores, Maribel Hernández-Rosales
Xuất bản: England: Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis , 2025
Bộ sưu tập: NCBI
ddc:  133.5266
 
Amino acid variants in the HLA-DQA1 and HLA-DQB1 molecules explain the major association of variants with relapse status in pediatric patients with steroid-sensitive nephrotic syndrome
Tác giả: Hui Yin, Sijie Yu, Xuelan Chen, Haiping Yang, Mo Wang, Qiu Li, Han Chan
Xuất bản: England: Italian journal of pediatrics , 2025
Bộ sưu tập: NCBI
ddc:  547.067
 
Loss-of-function variants of CYP706A3 in two natural accessions of Arabidopsis thaliana increase floral sesquiterpene emission
Tác giả: Moonyoung Kang, Min-Soo Choi, Yuri Choi, Youbong Hyun, Hyeonjin Kim, Sang-Gyu Kim, Seula Lee
Xuất bản: England: BMC plant biology , 2025
Bộ sưu tập: NCBI
ddc:  133.3237
 
Intratype variants and high genotypic diversity of human papillomavirus with polymorphisms in the antigenic hypervariable loops of the L1 protein from women living with human immunodeficiency virus
Tác giả: Melina Vieira Alves, Letícia Alves Dos Santos Silva, Brenda Evenlin Barreto da Silva, Marcus Vinicius de Aragão Batista, Lígia Mara Dolce de Lemos, Edilaine Dória Araújo, Guilherme Oliveira Pereira
Xuất bản: England: Journal of medical microbiology , 2025
Bộ sưu tập: NCBI
ddc:  354.4927
 
Genetic variants in
Tác giả: Haneen M Alhnaity, Bayan A Abdel Majeed, May Abdelhalim, Berjas Abumsimir, Enas Daoud, Asma M Ghazzy, Dima Hattab, Yazun Jarrar, Ala'a S Shraim
Xuất bản: United States: The Libyan journal of medicine , 2025
Bộ sưu tập: NCBI
ddc:  004.563
 
Somatic Landscape of Oncogenic Variants Across the Main Cancer Subtypes in Latin America: A Narrative Review
Tác giả: Talia Wegman-Ostrosky, Andrés Yesid Bonilla Salcedo, Mistral Castellanos Mares, Isabel Espino-Gutiérrez, José Elias García-Ortiz, Andrea Gutiérrez-Lara, Carla Daniela Robles-Espinoza, Alejandro Ruíz-Patiño, Daniela Shveid Gerson, Lucia Taja-Chayeb, Catalina Trejo-Becerril, Zyanya Lucia Zatarain-Barrón
Xuất bản: United States: JCO global oncology , 2025
Bộ sưu tập: NCBI
ddc:  346.025
 
Systematic analysis of SCN5A variants associated with inherited cardiac diseases
Tác giả: Alexis Hermida, Flavie Ader, Christophe Beyls, Adrien Bloch, Philippe Charron, Gaël Clerici, Elise Daire, Pascal Defaye, Isabelle Denjoy, Delphine Dupin-Deguine, Fabrice Extramiana, Véronique Fressart, Estelle Gandjbakhch, Loic Garçon, Emmanuelle Ginglinger, Jean-Sylvain Hermida, Guillaume Jedraszak, Laurence Jesel, Diala Khraiche, Didier Klug, Maciej Kubala, Jérôme Lacotte, Mikael Laredo, Xavier Le Guillou, Antoine Leenhardt, Francois Lesaffre, Isabelle Magnin-Poull, Alice Maltret, Eloi Marijon, Phillipe Maury, Sophie Nambot, Nathalie Neyroud, Sandro Ninni, Aurélien Palmyre, Jean Luc Pasquie, Julie Proukhnitzky, Patricia Reant, Pascale Richard, Anne Rollin, Caroline Rooryck, Frédéric Sacher, Elise Schaefer, Agathe Vernier, Karim Wahbi, Xavier Waintraub, Victor Waldmann, Sacha Weber, Pierre-François Winum, Amir Zouaghi
Xuất bản: United States: Heart rhythm , 2025
Bộ sưu tập: NCBI
ddc:  355.02011
 

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