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61-70 trong số 107 kết quả
Construction of a prognostic risk model for clear cell renal cell carcinomas based on centrosome amplification-related g...
Tác giả: Bingru Zhou, Fengye Liu, Ying Wan, Lin Luo, Zhenzhong Ye, Jinwei He, Long Tang, Wenzhe Ma, Rongyang Dai
Xuất bản: Germany: Molecular genetics and genomics : MGG , 2025
Bộ sưu tập: NCBI
ddc: 
 
Corrigendum to "Pompe disease: Unmet needs and emerging therapies" [Mol Genet Metab. 2024 Nov;143(3):108590]
Tác giả: Kelly A George, Allyson L Anding, Arjan van der Flier, Giulio S Tomassy, Kenneth I Berger, Tracy Y Zhang, S Pablo Sardi
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Genome-Wide Scan of Fifth Finger Clinodactyly
Tác giả: Myoung Keun Lee, Noah Herrick, Mary L Marazita, John R Shaffer, Seth M Weinberg
Xuất bản: United States: Molecular genetics & genomic medicine , 2025
Bộ sưu tập: NCBI
ddc: 
 
Van der Woude syndrome and amniotic band sequence: A clue to a common genetic etiology? A case report
Tác giả: Ana Luiza Bossolani-Martins, Joanna Goes Castro Meira, Gerson Shigeru Kobayashi, Adriana Barbosa-Gonçalves, Maria Rita Passos-Bueno, Agnes Cristina Fett-Conte
Xuất bản: Brazil: Genetics and molecular biology , 2025
Bộ sưu tập: NCBI
ddc: 
 
Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenat...
Tác giả: Yanan Wang, Yong Zhou, Yuqiong Chai, Weiwei Zang, Hongchao Wang, Fan Yin, Qianqian Tan, Zhigang Chen
Xuất bản: United States: Molecular genetics & genomic medicine , 2025
Bộ sưu tập: NCBI
ddc: 
 
SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHology
Tác giả: Clara D M van Karnebeek, Annelieke R Müller, Kit C B Roes, Anna Sanchez, Raymond Schipper, Mark D Wilkinson, Peter A C 't Hoen, Laura Benkemoun, Ibrahim Boussaad, Martina C Cornel, Joanna IntHout, Martin de Kort, Sofia de Oliveira Martins, Alessandro Prigione, Tessel Rigter
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Argentine program of home infusions with enzyme replacement therapy for lysosomal diseases: Results in safety, quality o...
Tác giả: Guillermo Drelichman, Juan M Politei, María Larroude, Gabriel Aguilar, Paola Reichel, Alberto Dubrovsky, Gustavo Cabrera, Adriana Arizo, Marcela Corrales, Adriana Degano, Alejandro Faimboin, Analía Carvani, Nicolás Fernandez Escobar, Fernando Gómez Pizarro, Fernando Perretta, Barbara Soberón, Nora Basack, Norberto Guelbert, Nora Watman, Norberto Antongiovanni, Fernanda Cuello, Gerardo Mogni
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc: 
 
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies,...
Tác giả: Kosuke Taniguchi, Fuyuki Hasegawa, Kana Fukui, Seiji Wada, Katsusuke Ozawa, Yushi Ito, Haruhiko Sago, Kenichiro Hata, Yuka Okazaki, Asuka Hori, Hiroko Ogata-Kawata, Saki Aoto, Ohsuke Migita, Tomoko Kawai, Kazuhiko Nakabayashi, Kohji Okamura
Xuất bản: United States: Molecular genetics & genomic medicine , 2025
Bộ sưu tập: NCBI
ddc: 
 
Aggregates associated with amyotrophic lateral sclerosis sequester the actin-binding protein profilin 2
Tác giả: Sabrina Kubinski, Luisa Claus, Niko Hensel, Tobias Schüning, Andre Zeug, Norman Kalmbach, Selma Staege, Thomas Gschwendtberger, Susanne Petri, Florian Wegner, Peter Claus
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc: 
 
VEXAS Syndrome: A Perspective Focus on Genetics and Hematological Manifestations
Tác giả: Evdoxia Sapountzi, Genevieve Crane, Jane Gibson, Hatem Kaseb
Xuất bản: United States: Genetic testing and molecular biomarkers , 2025
Bộ sưu tập: NCBI
ddc: 
 

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