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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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John Wu

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Human Mutation|September 29, 2019

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variantsLoredana Bury, Karyn Megy, Jonathan C Stephens, et al.

The New England Journal of Medicine|December 4, 2014

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutationGiampaolo Trivellin, Adrian F Daly, Fabio R Faucz, et al.

Nature Communications|February 27, 2020

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variantsAna Rio-Machin, Tom Vulliamy, Nele Hug, et al.

The New England Journal of Medicine|June 9, 2016

Exome Sequencing and the Management of Neurometabolic DisordersMaja Tarailo-Graovac, Casper Shyr, Colin J Ross, et al.

Pageof 15

Search research articles

Showing results (141-150 of 144) with videos related to

Sort By:

Pageof 15

You have reached the last page of results.This site can display upto 144 results.

Human Mutation|September 29, 2019

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variantsLoredana Bury, Karyn Megy, Jonathan C Stephens, et al.

The New England Journal of Medicine|December 4, 2014

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutationGiampaolo Trivellin, Adrian F Daly, Fabio R Faucz, et al.

Nature Communications|February 27, 2020

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variantsAna Rio-Machin, Tom Vulliamy, Nele Hug, et al.

The New England Journal of Medicine|June 9, 2016

Exome Sequencing and the Management of Neurometabolic DisordersMaja Tarailo-Graovac, Casper Shyr, Colin J Ross, et al.

Pageof 15