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Bi-Allelic Variants in Three Genes Encoding Distinct Subunits of the Vesicular Ap-5 Complex Cause Hereditary Macular Dystrophy
AuthID
P-018-FAS
P-018-FAS
56
Author(s)
Kaminska, K
· Cancellieri, F
· Quinodoz, M
· Moye, AR
· Bauwens, M
· Lin, SY
· Janeschitz-Kriegl, L
· Hayman, T
· Barberán-Martínez, P
· Schlaeger, R
·[+21]·
[+15]·
Tran, H
· Ben-Yosef, T
· De Baere, E
· Webster, AR
· Arno, G
· Sergouniotis, PI
· Kohl, S
· Santos, C
· Rivolta, C
Document Type
Article
Year published
2025
Published
in AMERICAN JOURNAL OF HUMAN GENETICS, ISSN: 0002-9297
Volume: 112, Issue: 4, Pages: 808-828 (22)
Indexing
Publication Identifiers
Pubmed: 40081374
Scopus: 2-s2.0-105000036176
Wos: WOS:001464631400001
Source Identifiers
ISSN: 0002-9297
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| Name Order | Name | Name Order | Name | Name Order | Name | ||
|---|---|---|---|---|---|---|---|
| 1 | Kaminska, K; | 2 | Cancellieri, F; | 3 | Quinodoz, M; | ||
| 4 | Moye, AR; | 5 | Bauwens, M; | 6 | Lin, SY; | ||
| 7 | Janeschitz-Kriegl, L; | 8 | Hayman, T; | 9 | Barberán-Martínez, P; | ||
| 10 | Schlaeger, R; | 11 | van den Broeck, F; | 12 | Fernández, AA; | ||
| 13 | Fernández-Caballero,L; | 14 | Perea-Romero, I; | 15 | García-García, G; | ||
| 16 | Salom, D; | 17 | Mazzola, P; | 18 | Zuleger, T; | ||
| 19 | Poths, K; | 20 | Haack, TB; | 21 | Jacob, J; | ||
| 22 | Vermeer, S; | 23 | Terbeek, F; | 24 | Feltgen, N; | ||
| 25 | Moulin, AP; | 26 | Koutroumanou, L; | 27 | Papadakis, G; | ||
| 28 | Browning, AC; | 29 | Madhusudhan, S; | 30 | Gränse, L; | ||
| 31 | Banin, E; | 32 | Sousa, AB; | 33 | Santos, LC; | ||
| 34 | Kuehlewein, L; | 35 | De Angeli, P; | 36 | Leroy, BP; | ||
| 37 | Mahroo, OA; | 38 | Sedgwick, F; | 39 | Eden, J; | ||
| 40 | Pfau, M; | 41 | Andréasson, S; | 42 | Scholl, HPN; | ||
| 43 | Ayuso, C; | 44 | Millán, JM; | 45 | Sharon, D; | ||
| 46 | Tsilimbaris, MK; | 47 | Vaclavik, V; | 48 | Tran, H; | ||
| 49 | Ben-Yosef, T; | 50 | De Baere, E; | 51 | Webster, AR; | ||
| 52 | Arno, G; | 53 | Sergouniotis, PI; | 54 | Kohl, S; | ||
| 55 | Santos, C; | 56 | Rivolta, C; |
