Literature DB >> 33958773

Clinical versus research genomics in kidney disease.

Andrew J Mallett1,2,3,4, Nine Knoers5, John Sayer6,7,8, Zornitza Stark9,10,11.   

Abstract

Entities:  

Year:  2021        PMID： 33958773     DOI： 10.1038/s41581-021-00436-0

Source DB:  PubMed          Journal:  Nat Rev Nephrol        ISSN： 1759-5061            Impact factor:   28.314


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  1 in total

1.  Genetics-first approach improves diagnostics of ESKD patients <50 years old.

Authors:  Rozemarijn Snoek; Richard H van Jaarsveld; Tri Q Nguyen; Edith D J Peters; Martin G Elferink; Robert F Ernst; Maarten B Rookmaaker; Marc R Lilien; Eric Spierings; Roel Goldschmeding; Nine V A M Knoers; Bert van der Zwaag; Arjan D van Zuilen; Albertien M van Eerde
Journal:  Nephrol Dial Transplant       Date:  2022-01-25       Impact factor: 5.992
  1 in total
  1 in total

1.  Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.

Authors:  Laura Powell; Eric Olinger; Sarah Wedderburn; Vijayalakshmi Salem Ramakumaran; Usha Kini; Jill Clayton-Smith; Simon C Ramsden; Sarah J Rice; Miguel Barroso-Gil; Ian Wilson; Lorraine Cowley; Sally Johnson; Elizabeth Harris; Tara Montgomery; Marta Bertoli; Eugen Boltshauser; John A Sayer
Journal:  Brain Commun       Date:  2021-07-16
  1 in total

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