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641-650 trong số 897 kết quả
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisys...
Tác giả: Kinsley Belle, Juan Caicedo, Gregory M Enns, Casey A Gifford, Marco H Ji, Ioannis Karakikes, Dwight Koeberl, Alexander Kreymerman, Richard T Lee, Mark Mercola, Stephanie P Muscat, Jamal Nasir, Sandeep Randhawa, Andrew M Schaefer, Robert W Taylor, Nirmal Vadgama, Megan Wong, Edward H Wood, Jill L Young
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc:  523.88
 
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in...
Tác giả: Kirkland A Wilson, Kimberly Chapman, Gary Cunningham, Debra Regier, Marshall Summar, Yun Zhou
Xuất bản: United States: Molecular genetics and metabolism reports , 2025
Bộ sưu tập: NCBI
ddc:  302.222
 
Molecular epidemiological study of Pseudomonas aeruginosa strains isolated from hospitals in Brazil by MLST and CRISPR/C...
Tác giả: Keyla Vitória Marques Xavier, Adrianne Maria de Albuquerque Silva, Marcus Vinícius de Aragão Batista, Beatriz Souza Toscano de Melo, Ana Carolina de Oliveira Luz, Valdir de Queiroz Balbino, Tereza Cristina Leal-Balbino, José Wilson Silva-Junior
Xuất bản: Germany: Molecular genetics and genomics : MGG , 2025
Bộ sưu tập: NCBI
ddc:  354.765284
 
Isolated Congenital Vertebral Anomaly and Sprengel's Deformity in a WBP11 Pathogenic Variant
Tác giả: Bo Kyung Shin, Jaewon Kim, Myung Shin Kim, Dae-Hyun Jang
Xuất bản: Netherlands: European journal of medical genetics , 2025
Bộ sưu tập: NCBI
ddc:  949.59012
 
The craniofacial, dental and systemic manifestations of Enamel Renal Syndrome: A Scoping review
Tác giả: Roomaney Ia, S Kabbashi, M Chetty
Xuất bản: Netherlands: European journal of medical genetics , 2025
Bộ sưu tập: NCBI
ddc:  612.8252
 
Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome
Tác giả: Mary-Bronwen L Chalkley, Lindsey N Guerin, Tenhir Iyer, Samantha Mallahan, Sydney Nelson, Mustafa Sahin, Emily Hodges, Kevin C Ess, Rebecca A Ihrie
Xuất bản: England: Human molecular genetics , 2025
Bộ sưu tập: NCBI
ddc:  954.98
 
Preconception carrier screening in 2025: what's next? : A collection in the journal of community genetics
Tác giả: Martina C Cornel
Xuất bản: Germany: Journal of community genetics , 2025
Bộ sưu tập: NCBI
ddc:  949.59012
 
Calcium-sensing receptor genetic variants and their association with CKD-MBD in South Indian Tamils
Tác giả: G Priyadarshini, A Dhinesh, Sreejith Parameswaran, Jayaprakash Sahoo, Sandhiya Selvarajan, Medha Rajappa
Xuất bản: England: Journal of applied genetics , 2025
Bộ sưu tập: NCBI
ddc:  724.52
 
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:  002.074
 
SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHolog...
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:  629.4582
 

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