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Kym M Boycott

Showing results (1-10 of 239) with videos related to

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Nature Reviews. Drug Discovery|December 16, 2017
Addressing challenges in the diagnosis and treatment of rare genetic diseasesKym M Boycott, Diego Ardigó
Genetics|October 16, 2014
Understanding rare disease pathogenesis: a grand challenge for model organismsPhilip Hieter, Kym M Boycott
Paediatrics & Child Health|May 18, 2018
Genome-wide sequencing technologies: A primer for paediatriciansRobin Z Hayeems, Kym M Boycott
Nature Reviews. Genetics|January 18, 2024
The expanding diagnostic toolbox for rare genetic diseasesKristin D Kernohan, Kym M Boycott
American Journal of Medical Genetics. Part A|February 7, 2019
39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual MeetingKym M Boycott, A Micheil Innes
Human Mutation|November 28, 2013
Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variantsAmanda Smith, Kym M Boycott, Olga Jarinova
Genome Research|February 3, 2025
The additional diagnostic yield of long-read sequencing in undiagnosed rare diseasesGiulia F Del Gobbo, Kym M Boycott
American Journal of Medical Genetics. Part A|May 9, 2023
Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1Thomas Kovesi, Samantha K Rojas, Kym M Boycott
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 24, 2018
Unsolved recognizable patterns of human malformation: Challenges and opportunitiesKym M Boycott, David A Dyment, A Micheil Innes
Human Mutation|May 10, 2022
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmakingKym M Boycott, Danielle R Azzariti, Ada Hamosh, et al.
Pageof 24

Showing results (1-10 of 239) with videos related to

Sort By:
Pageof 24
Nature Reviews. Drug Discovery|December 16, 2017
Addressing challenges in the diagnosis and treatment of rare genetic diseasesKym M Boycott, Diego Ardigó
Genetics|October 16, 2014
Understanding rare disease pathogenesis: a grand challenge for model organismsPhilip Hieter, Kym M Boycott
Paediatrics & Child Health|May 18, 2018
Genome-wide sequencing technologies: A primer for paediatriciansRobin Z Hayeems, Kym M Boycott
Nature Reviews. Genetics|January 18, 2024
The expanding diagnostic toolbox for rare genetic diseasesKristin D Kernohan, Kym M Boycott
American Journal of Medical Genetics. Part A|February 7, 2019
39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual MeetingKym M Boycott, A Micheil Innes
Human Mutation|November 28, 2013
Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variantsAmanda Smith, Kym M Boycott, Olga Jarinova
Genome Research|February 3, 2025
The additional diagnostic yield of long-read sequencing in undiagnosed rare diseasesGiulia F Del Gobbo, Kym M Boycott
American Journal of Medical Genetics. Part A|May 9, 2023
Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1Thomas Kovesi, Samantha K Rojas, Kym M Boycott
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 24, 2018
Unsolved recognizable patterns of human malformation: Challenges and opportunitiesKym M Boycott, David A Dyment, A Micheil Innes
Human Mutation|May 10, 2022
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmakingKym M Boycott, Danielle R Azzariti, Ada Hamosh, et al.
Pageof 24