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Showing results (181-190 of 184) with videos related to

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Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.
Molecular Syndromology|October 27, 2016
Gene Panel Testing in Epileptic Encephalopathies and Familial EpilepsiesRikke S Møller, Line H G Larsen, Katrine M Johannesen, et al.
Plos One|November 23, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, et al.
Nature Communications|July 25, 2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathyYu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, et al.
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Showing results (181-190 of 184) with videos related to

Sort By:
Pageof 19
You have reached the last page of results.This site can display upto 184 results.
Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.
Molecular Syndromology|October 27, 2016
Gene Panel Testing in Epileptic Encephalopathies and Familial EpilepsiesRikke S Møller, Line H G Larsen, Katrine M Johannesen, et al.
Plos One|November 23, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, et al.
Nature Communications|July 25, 2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathyYu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, et al.
Pageof 19