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Human mutation

Showing results (1721-1730 of 5,734) with videos related to

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Human Mutation|April 26, 2018
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12André B P van Kuilenburg, Maja Tarailo-Graovac, Judith Meijer, et al.
Human Mutation|April 27, 2018
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genesOzge Ceyhan-Birsoy, Maya M Miatkowski, Elizabeth Hynes, et al.
Human Mutation|August 12, 2018
Exploring genetic modifiers of Gaucher disease: The next horizonBrad A Davidson, Shahzeb Hassan, Eric Joshua Garcia, et al.
Human Mutation|October 7, 2021
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndromeKoki Nagai, Tetsuya Niihori, Nobuhiko Okamoto, et al.
Human Mutation|October 25, 2021
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classificationCourtney Thaxton, Molly E Good, Marina T DiStefano, et al.
Human Mutation|September 24, 2021
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspectiveHuahua Zhong, Meng Yu, Pengfei Lin, et al.
Human Mutation|September 29, 2021
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjectsMerin George, Avani Solanki, Niranjan Chavan, et al.
Human Mutation|May 5, 2022
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)Tess Holling, Jasmin Lisfeld, Jessika Johannsen, et al.
Human Mutation|May 5, 2022
Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrumMackenzie D Postel, Julie O Culver, Charité Ricker, et al.
Human Mutation|July 23, 2022
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing lossRobert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, et al.
Pageof 574

Showing results (1721-1730 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|April 26, 2018
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12André B P van Kuilenburg, Maja Tarailo-Graovac, Judith Meijer, et al.
Human Mutation|April 27, 2018
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genesOzge Ceyhan-Birsoy, Maya M Miatkowski, Elizabeth Hynes, et al.
Human Mutation|August 12, 2018
Exploring genetic modifiers of Gaucher disease: The next horizonBrad A Davidson, Shahzeb Hassan, Eric Joshua Garcia, et al.
Human Mutation|October 7, 2021
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndromeKoki Nagai, Tetsuya Niihori, Nobuhiko Okamoto, et al.
Human Mutation|October 25, 2021
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classificationCourtney Thaxton, Molly E Good, Marina T DiStefano, et al.
Human Mutation|September 24, 2021
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspectiveHuahua Zhong, Meng Yu, Pengfei Lin, et al.
Human Mutation|September 29, 2021
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjectsMerin George, Avani Solanki, Niranjan Chavan, et al.
Human Mutation|May 5, 2022
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)Tess Holling, Jasmin Lisfeld, Jessika Johannsen, et al.
Human Mutation|May 5, 2022
Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrumMackenzie D Postel, Julie O Culver, Charité Ricker, et al.
Human Mutation|July 23, 2022
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing lossRobert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, et al.
Pageof 574