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Human genetics

Identifying the impact of ARHGAP and MAP gene families on autism spectrum disorders

Tianci Gao, Wenjun Dang, Zhimei Jiang, Yuwei Jiang

published 08 Nov 2024

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Identifying key genes in COPD risk via multiple population data integration and gene prioritization

Afeefa Zainab, Hayato Anzawa, Kengo Kinoshita

published 07 Nov 2024

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Genetic background of high myopia in children

Urh Šenk, Bernard Čižman, Karin Writzl, Manca Tekavčič Pompe

published 04 Nov 2024

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Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up

Beatriz Carmona-Hidalgo, Estefanía Herrera-Ramos, Rocío Rodríguez-López, Laia Nou-Fontanet, José C. Moreno, Juan Antonio Blasco-Amaro, Juliane Léger, Juan Darío Ortigoza-Escobar, NKX2-1 -Related Disorders Guideline Working Group

published 28 Oct 2024

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Association of variants in AGTR1, ACE, MTHFR genes with microalbuminuria and risk factors for the onset of diabetic nephropathy in adolescents with type 1 diabetes in the population of Serbia

Smiljka Kovacevic, Vera Zdravkovic, Jelena Blagojevic, Stefan Djordjevic, Jelena Miolski, Vladimir Gasic, Marina Jelovac, Milena Ugrin, Sonja Pavlovic, Maja Jesic

published 24 Oct 2024

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Harnessing explainable artificial intelligence for patient-to-clinical-trial matching: A proof-of-concept pilot study using phase I oncology trials

Satanu Ghosh, Hassan Mohammed Abushukair, Arjun Ganesan, Chongle Pan, Abdul Rafeh Naqash, Kun Lu

published 24 Oct 2024

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Decisional conflict and knowledge in women with BRCA1/2 pathogenic variants: An exploratory age group analysis of a randomised controlled decision aid trial

Sibylle Kautz-Freimuth, Zoë Lautz, Arim Shukri, Marcus Redaèlli, Kerstin Rhiem, Rita Schmutzler, Stephanie Stock

published 24 Oct 2024

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Epi-SSA: A novel epistasis detection method based on a multi-objective sparrow search algorithm

Liyan Sun, Jingwen Bian, Yi Xin, Linqing Jiang, Linxuan Zheng

published 24 Oct 2024

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Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening

Minyi Tan, Xiulian Liu, Yinhong Zhang, Yifan Yin, Ting Chen, Yulin Li, Lulu Feng, Bo Zhu, Chunjing Xu, Chengfang Tang, Meng Sun, Liyun Jia, Weiwei Jin, Chunna Fan, Hui Huang, Xiaohua Wang, Jizhen Feng, Hui Zou, Lianshu Han, Jingkun Miao, Baosheng Zhu, Cidan Huang, Yonglan Huang

published 22 Oct 2024

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Intraspecific variability in plant and soil chemical properties in a common garden plantation of the energy crop Populus

Matthew E. Craig, Anne E. Harman-Ware, Kevin R. Cope, Udaya C. Kalluri

published 21 Oct 2024

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Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome

Anastasiia Buianova, Marina Yukina, Valery Cheranev, Oleg Suchalko, Anna Shmitko, Alina Samitova, Nurana Nuralieva, Elena Kulagina, Elena Savvateeva, Ekaterina Troshina, Denis Rebrikov, Dmitry Gryadunov, Dmitriy Korostin

published 18 Oct 2024

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Genome-wide association study of salt tolerance at the seed germination stage in lettuce

Modan K. Das, Sunchung Park, Neil D. Adhikari, Beiquan Mou

published 18 Oct 2024

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Immunocyte phenotype and breast cancer risk: A Mendel randomization analysis

Bolin Li, Xinmeng Li, Jialing Liu, Yuanhe Gao, Yan Li

published 17 Oct 2024

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