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A Relatively Common Homozygoustrappc4Splicing Variant Is Associated with an Early-Infantile Neurodegenerative Syndrome
AuthID
P-00S-Q37
P-00S-Q37
46
Author(s)
Ghosh, SG
·Scala, M
·Beetz, C
·Helman, G
·Stanley, V
·[+4]·
[+1]·
[+7]·
[+3]·
[+1]·
[+6]·
[+4]·
Issa, MY
·Gleeson, JG
1
Group Author(s)
Undiagnosed Dis Network
Tipo de Documento
Article in Press
Year published
2020
Publicado
in EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN: 1018-4813
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ISSN: 1018-4813
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Name Order | Nome | Name Order | Nome | Name Order | Nome | ||
---|---|---|---|---|---|---|---|
1 | Ghosh, SG; | 2 | Scala, M; | 3 | Beetz, C; | ||
4 | Helman, G; | 5 | Stanley, V; | 6 | Yang, XX; | ||
7 | Breuss, MW; | 8 | Mazaheri, N; | 9 | Selim, L; | ||
10 | Hadipour, F; | 11 | Pais, L; | 12 | Stutterd, CA; | ||
13 | Karageorgou, V; | 14 | Begtrup, A; | 15 | Crunk, A; | ||
16 | Juusola, J; | 17 | Willaert, R; | 18 | Flore, LA; | ||
19 | Kennelly, K; | 20 | Spencer, C; | 21 | Brown, M; | ||
22 | Trapane, P; | 23 | Hurst, ACE; | 24 | Rutledge, SL; | ||
25 | Goodloe, DH; | 26 | McDonald, MT; | 27 | Shashi, V; | ||
28 | Schoch, K; | 29 | Tomoum, H; | 30 | Zaitoun, R; | ||
31 | Hadipour, Z; | 32 | Galehdari, H; | 33 | Pagnamenta, AT; | ||
34 | Mojarrad, M; | 35 | Sedaghat, A; | 36 | Dias, P; | ||
37 | Quintas, S; | 38 | Eslahi, A; | 39 | Shariati, G; | ||
40 | Bauer, P; | 41 | Simons, C; | 42 | Houlden, H; | ||
43 | Issa, MY; | 44 | Zaki, MS; | 45 | Maroofian, R; | ||
46 | Gleeson, JG; |