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                                       Details for article 2 of 11 found articles
 
 
  A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)
 
 
Title: A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)
Author: Pappalardo, Juanita
Heath Jeffery, Rachael C.
Thompson, Jennifer A.
Chelva, Enid
Pham, Quang
Constable, Ian J.
McLaren, Terri L.
Lamey, Tina M.
De Roach, John N.
Chen, Fred K.
Appeared in: Documenta ophthalmologica
Paging: Volume 143 () nr. 1 pages 61-73
Year: 2021-01-29
Contents:
Publisher: Springer Berlin Heidelberg, Berlin/Heidelberg
Source file: Elektronische Wetenschappelijke Tijdschriften
 
 

                             Details for article 2 of 11 found articles
 
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 Koninklijke Bibliotheek - National Library of the Netherlands