An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia-Reference-Cited by-同舟云学术

An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia

Published:2020-05-04 Issue:10 Volume:139 Page:1273-1283
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Shamseldin Hanan E.,Al Mogarri Ibrahim,Alqwaiee Mansour M.,Alharbi Adel S.,Baqais Khaled,AlSaadi Muslim,AlAnzi Talal,Alhashem Amal,Saghier Afaf,Ameen Waleed,Ibrahim Niema,Yang Jason,Abdulwahab Firdous,Hashem Mais,Chivukula Raghu R.,Alkuraya Fowzan S.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-020-02170-2.pdf

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5. Fassad MR, Shoman WI, Morsy H, Patel MP, Radwan N, Jenkins L, Cullup T, Fouda E, Mitchison HM, Fasseeh N (2020) Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. Clin Genet 97(3):509–515

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