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Pengfei Liu

Showing results (1101-1110 of 1,193) with videos related to

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Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
NEJM AI|July 4, 2024
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian DisordersDongxue Mao, Chaozhong Liu, Linhua Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
ACS ES&T Air|September 19, 2024
Brown Carbon Emissions from Biomass Burning under Simulated Wildfire and Prescribed-Fire ConditionsChase K Glenn, Omar El Hajj, Zachary McQueen, et al.
American Journal of Human Genetics|November 4, 2023
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiationJonathan J Rios, Yang Li, Nandina Paria, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2020
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditionsTomasz Gambin, Qian Liu, Justyna A Karolak, et al.
Journal of Inherited Metabolic Disease|February 14, 2021
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDGHind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
Clinical Chemistry|January 3, 2025
Mate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic DiagnosticsJicheng Qian, Huilin Wang, Hailei Liang, et al.
Environmental Science & Technology|May 21, 2021
Particle-Phase Photoreactions of HULIS and TMIs Establish a Strong Source of H<sub>2</sub>O<sub>2</sub> and Particulate Sulfate in the Winter North China PlainCan Ye, Hui Chen, Erik H Hoffmann, et al.
Pageof 120

Showing results (1101-1110 of 1,193) with videos related to

Sort By:
Pageof 120
Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
NEJM AI|July 4, 2024
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian DisordersDongxue Mao, Chaozhong Liu, Linhua Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesShilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
ACS ES&T Air|September 19, 2024
Brown Carbon Emissions from Biomass Burning under Simulated Wildfire and Prescribed-Fire ConditionsChase K Glenn, Omar El Hajj, Zachary McQueen, et al.
American Journal of Human Genetics|November 4, 2023
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiationJonathan J Rios, Yang Li, Nandina Paria, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2020
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditionsTomasz Gambin, Qian Liu, Justyna A Karolak, et al.
Journal of Inherited Metabolic Disease|February 14, 2021
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDGHind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
Clinical Chemistry|January 3, 2025
Mate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic DiagnosticsJicheng Qian, Huilin Wang, Hailei Liang, et al.
Environmental Science & Technology|May 21, 2021
Particle-Phase Photoreactions of HULIS and TMIs Establish a Strong Source of H<sub>2</sub>O<sub>2</sub> and Particulate Sulfate in the Winter North China PlainCan Ye, Hui Chen, Erik H Hoffmann, et al.
Pageof 120