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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Lookup NU author(s): Professor Hanns Lochmuller

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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Author(s): Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, denDunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Hohn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, MacekJr M, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmuller H

Publication type: Review

Publication status: Published

Journal: The American Journal of Human Genetics

Year: 2017

Volume: 100

Issue: 5

Pages: 695-705

Print publication date: 04/05/2017

Online publication date: 04/05/2017

Acceptance date: 02/04/2016

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

URL: https://doi.org/10.1016/j.ajhg.2017.04.003

DOI: 10.1016/j.ajhg.2017.04.003


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