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101-110 trong số 129 kết quả
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature
Tác giả: Christy W LaFlamme, Karim Karimi, Andreas Brunklaus, Lynette G Sadleir, Ingrid E Scheffer, Bekim Sadikovic, Heather C Mefford, Cassandra Rastin, Edith P Almanza Fuerte, Talia Allan, Sophie J Russ-Hall, Amy L Schneider, Daniel Stobo, Gaetan Lesca, Joseph D Symonds
Xuất bản: United States: Epilepsia , 2025
Bộ sưu tập: NCBI
ddc:  912.01
 
Characterization of plasma cell-free DNA variants as of tumor- or clonal hematopoiesis-origin in 16,812 advanced cancer ...
Tác giả: Daniel Magee, Valeriy Domenyuk, Megan Landsverk, Magdalena Jurkiewicz, Brian Shimkus, Ian Pinto, Daniel Patterson, David Hsiehchen, Supriya Koya, Bradley Somer, Michel Velez, Anthony F Shields, Jim Abraham, Jennifer Cultrera, Jennifer R Ribeiro, Robert Hahn-Lowry, George W Sledge, Matthew Oberley, Milan Radovich, David Spetzler, Nieves Perdigones Borderias, Jeff Swensen, Praveena Solipuram, Adanma Ayanambakkam, Raja Mehdi, Jagathi Challagalla, Elisabeth Heath
Xuất bản: United States: Clinical cancer research : an official journal of the American Association for Cancer Research , 2025
Bộ sưu tập: NCBI
ddc:  920.71
 
Novel STAG3 variant causes oligoasthenoteratozoospermia with high sperm aneuploidy rate
Tác giả: Polina N Tsabai, Nadezhda S Pavlova, Safar I Gamidov, Elena V Uvarova, Dmitry Yu Trofimov, Taras V Shatylko, Zaira Kh Kumykova, Olga K Stupko, Taisya O Kochetkova, Nataliia N Lobanova, Andrey Yu Goltsov, Olga O Leukhina, Jekaterina Shubina
Xuất bản: Netherlands: Journal of assisted reproduction and genetics , 2025
Bộ sưu tập: NCBI
ddc:  070.48346
 
SCN5A variant type-dependent risk prediction in Brugada syndrome
Tác giả: Takanori Aizawa, Takeru Makiyama, Junichi Ozawa, Hiroshi Suzuki, Kazushi Yasuda, Hisaaki Aoki, Takashi Kurita, Yoko Yoshida, Tsugutoshi Suzuki, Yoshihide Nakamura, Yoshiharu Ogawa, Shintaro Yamagami, Hai Huang, Hiroshi Morita, Shinsuke Yuasa, Masakazu Fukuda, Makoto Ono, Hidekazu Kondo, Naohiko Takahashi, Seiko Ohno, Yoshihisa Nakagawa, Koh Ono, Minoru Horie, Tomohiko Imamura, Megumi Fukuyama, Keiko Sonoda, Koichi Kato, Takashi Hisamatsu, Yuko Nakamura, Kenji Hoshino
Xuất bản: England: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology , 2025
Bộ sưu tập: NCBI
ddc:  037.811
 
Potential Biases and Variant Impact in Swedish COVID-19 Survival Analysis
Tác giả: Ting Yu, Jun Li, Dong Chen
Xuất bản: United States: Critical care medicine , 2025
Bộ sưu tập: NCBI
ddc:  612.665
 
Clear Cell Variant of Oral Squamous Cell Carcinoma: A Rare Case
Tác giả: Ananjan Chatterjee, Swapan K Purkait, Hiralal Ash, Ishita Banerjee, Abhishek Banerjee, Karthikeyan Ramalingam
Xuất bản: United States: Cureus , 2025
Bộ sưu tập: NCBI
ddc:  271.11
 
Assessment of Pathogenic Variants in the PAH Gene and Genotype-Phenotype Correlation in Phenylketonuria Patients from Tu...
Tác giả: Özgür Balasar, Banu Kadıoğlu Yılmaz, Müşerref Başdemirci, Hatice Koçak Eker, Büşra Eser Çavdartepe, Levent Şimşek, Ebru Tunçez, Fahrettin Duymuş
Xuất bản: United States: Biochemical genetics , 2025
Bộ sưu tập: NCBI
ddc:  972.8202
 
Potential Impact of SOD2 (rs4880; p.Val16Ala) Variant with the Susceptibility for Childhood Bronchial Asthma
Tác giả: Nahla H Anber, Hanaa Elsayed Ahmed Shahin, Riham Elsayed, Afaf M Elsaid, Adel I Alalawy, Rami M Elshazli, Heba K Badawy, Enas A Oraby, Sameh A Mohammed, Esraa Ibrahim A Shaaban, Zeinab Rizk Attia, Shereen Mohamed, Mona Farag Shabana, Mohamed Adel El-Eshmawy
Xuất bản: United States: Biochemical genetics , 2025
Bộ sưu tập: NCBI
ddc:  241.5
 
SCN5A variant type-dependent risk prediction in Brugada syndrome
Tác giả: Takanori Aizawa, Takeru Makiyama, Junichi Ozawa, Hiroshi Suzuki, Kazushi Yasuda, Hisaaki Aoki, Takashi Kurita, Yoko Yoshida, Tsugutoshi Suzuki, Yoshihide Nakamura, Yoshiharu Ogawa, Shintaro Yamagami, Hai Huang, Hiroshi Morita, Shinsuke Yuasa, Masakazu Fukuda, Makoto Ono, Hidekazu Kondo, Naohiko Takahashi, Seiko Ohno, Yoshihisa Nakagawa, Koh Ono, Minoru Horie, Tomohiko Imamura, Megumi Fukuyama, Keiko Sonoda, Koichi Kato, Takashi Hisamatsu, Yuko Nakamura, Kenji Hoshino
Xuất bản: England: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology , 2025
Bộ sưu tập: NCBI
ddc:  005.422
 
Creutzfeldt-Jakob Disease variant presenting with prominent basal ganglia imaging
Tác giả: Denison Alves Pedrosa, Rafael Bernhart Carra, Natália Merten Athayde, Karina Silveira Massruha, Rachel Marin de Carvalho, René de Araújo Gleizer
Xuất bản: Brazil: Einstein (Sao Paulo, Brazil , 2025
Bộ sưu tập: NCBI
ddc:  070.48346
 

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