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Genomic Sequencing Highlights the Diverse Molecular Causes of Perrault Syndrome: a Peroxisomal Disorder (Pex6), Metabolic Disorders (Clpp, Ggps1), and Mtdna Maintenance/Translation Disorders (Lars2, Tfam)
AuthID
P-00S-54J
P-00S-54J
23
Author(s)
Tucker, EJ
·Rius, R
·Jaillard, S
·Bell, K
·Travessa, A
·Dupont, J
·Dulon, J
·Vuillaumier Barrot, S
·[+3]·
van den Bergen, J
·Hanna, C
·Simpson, A
·Ayers, K
·Thorburn, DR
·Christodoulou, J
·Sinclair, AH
Document Type
Article
Year published
2020
Published
in HUMAN GENETICS, ISSN: 0340-6717
Volume: 139, Issue: 10, Pages: 1325-1343 (19)
Indexing
Publication Identifiers
Pubmed: 32399598
Scopus: 2-s2.0-85084646902
Wos: WOS:000532127000001
Source Identifiers
ISSN: 0340-6717
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Name Order | Name | Name Order | Name | Name Order | Name | ||
---|---|---|---|---|---|---|---|
1 | Tucker, EJ; | 2 | Rius, R; | 3 | Jaillard, S; | ||
4 | Bell, K; | 5 | Lamont, PJ; | 6 | Travessa, A; | ||
7 | Dupont, J; | 8 | Sampaio, L; | 9 | Dulon, J; | ||
10 | Vuillaumier Barrot, S; | 11 | Whalen, S; | 12 | Isapof, A; | ||
13 | Stojkovic, T; | 14 | Quijano Roy, S; | 15 | Robevska, G; | ||
16 | van den Bergen, J; | 17 | Hanna, C; | 18 | Simpson, A; | ||
19 | Ayers, K; | 20 | Thorburn, DR; | 21 | Christodoulou, J; | ||
22 | Touraine, P; | 23 | Sinclair, AH; |