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11-20 trong số 134 kết quả
A new variant of dual left anterior descending artery: Type VI-B
Tác giả: Damandeep Singh, Aprateem Mukherjee, Sanjeev Kumar, Satyavir Yadav
Xuất bản: India: Indian journal of thoracic and cardiovascular surgery , 2025
Bộ sưu tập: NCBI
ddc:  809.008
 
The Omicron variant BA.2.86.1 of SARS- CoV-2 demonstrates an altered interaction network and dynamic features to enhance the interaction with the hACE2
Tác giả: Taimur Khan, Muhammad Shahab, Ahmad M Alharbi, Muhammad Waqas, Zakirullah, Guojun Zheng
Xuất bản: England: Scientific reports , 2025
Bộ sưu tập: NCBI
ddc:  597.7388
 
A variant in HMMR/HMMR-AS1 is associated with serum alanine aminotransferase levels in the Ryukyu population
Tác giả: Noriko Ohyama, Masatoshi Matsunami, Minako Imamura, Akihiro Yoshida, Azeem Javed, Xiaoxi Liu, Ryosuke Kimura, Koichi Matsuda, Chikashi Terao, Shiro Maeda
Xuất bản: England: Scientific reports , 2025
Bộ sưu tập: NCBI
ddc:  617.523
 
A novel KDM5C variant corrects a previously erroneous diagnosis
Tác giả: Julia Chapin, Bekim Sadikovic, Jennifer Kerkhof, Charles E Schwartz, Roger E Stevenson, Cindy Skinner, Melanie May, Michael Friez, Robert Roger Lebel
Xuất bản: Netherlands: European journal of medical genetics , 2025
Bộ sưu tập: NCBI
ddc:  133.594
 
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders
Tác giả: Anthony C T Cheung, Catherine Argyriou, Eric Bareke, Nancy Braverman, Erminia Di Pietro, Yasmin D'Souza, Rebecca Ganetzky, Amy Goldstein, Jacek Majewski, Shruthi Mohan, P Muhammed Shabeer, Ratna Dua Puri, Adeline Vanderver, Christine Yergeau
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc:  978.02
 
MTHFR variant links homocysteine metabolism and endothelial cell dysfunction by targeting mitophagy in human thoracic aortic dissection patient induced pluripotent stem cell (iPSC) models
Tác giả: You Yu, Yihuan Chen, Xingyou Guo, Shijun Hu, Lianbo Shao, Han Shen, Zhenya Shen, Xiaomei Teng, Miao Yu, Meng Zhang, Jingze Zhu
Xuất bản: Egypt: Journal of advanced research , 2025
Bộ sưu tập: NCBI
ddc:  307.3362
 
Trio whole exome sequencing in Chinese childhood-onset lupus reveals novel candidate genes
Tác giả: Jianyang Ma, T Daniel Andrews, Todor Arsov, Lanfang Cao, Huihua Ding, Yuke He, Soon-Min Hong, Guojun Hou, Yuting Qin, Nan Shen, Qian Shen, Jingjing Tan, Carola G Vinuesa, Thuvaraka Ware, Philip Wu, Xiaoqian Wu, Chengmei Xie, Pingjing Zhang
Xuất bản: United States: Arthritis & rheumatology (Hoboken, N.J , 2025
Bộ sưu tập: NCBI
ddc:  978.02
 
Characterization of the phenotype and functional alternations of three HCN1 variants in Chinese epilepsy patients
Tác giả: Ziyao Han, Lingling Xie, Xiaorui Liu, Jiaxin Yang, Hanyu Luo, Ran Ding, Hengsheng Chen, Li Cheng, Zhixu Fang, Li Jiang
Xuất bản: Netherlands: Epilepsy research , 2025
Bộ sưu tập: NCBI
ddc:  809.008
 
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy nu...
Tác giả: Robin A Pilz, Dariush Skowronek, Loisa D Bonde, Tadeusz Kałużewski, Ole J Schamuhn, Raila Busch, Agnieszka Gach, Matthias Rath, Elisabeth Steinhagen-Thiessen, Ute Felbor
Xuất bản: Netherlands: European journal of medical genetics , 2025
Bộ sưu tập: NCBI
ddc:  809.008
 
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
Tác giả: Lachlan De Hayr, Laura E R Blok, Carey-Anne Evans, Ying Zhu, Futao Zhang, Michael Field, Alan Ma, Lesley Adès, Sarah Josephi-Taylor, Rolph Pfundt, Maha S Zaki, Hoda Tomoum, Kerith-Rae Dias, Anne Gregor, Julia Laube, André Reis, Sateesh Maddirevula, Mais O Hashem, Markus Zweier, Fowzan S Alkuraya, Reza Maroofian, Michael F Buckley, Joseph G Gleeson, Jingyi Long, Christiane Zweier, Mireia Coll-Tané, David A Koolen, Anita Rauch, Tony Roscioli, Annette Schenck, Robert J Harvey, Anaïs Begemann, Robyn D Moir, Ian M Willis, Martina Mocera, Gabriele Siegel, Katharina Steindl
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  297.1248
 

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