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De Novosmarca2Variants Clustered Outside the Helicase Domain Cause a New Recognizable Syndrome with Intellectual Disability and Blepharophimosis Distinct from Nicolaides-Baraitser Syndrome
AuthID
P-00S-G9X
P-00S-G9X
75
Author(s)
Cappuccio, G
·Sayou, C
·Tanno, PL
·Tisserant, E
·Bruel, AL
·Kennani, SE
·Sá, J
·Low, KJ
·Dias, C
·Havlovicová, M
·[+55]·
Castello, R
·D’Arrigo, S
·Sousa, SB
·Hennekam, RCM
·Sadikovic, B
·Thevenon, J
·Govin, J
·Vitobello, A
·Brunetti Pierri, N
1
Group Author(s)
Telethon Undiagnosed Dis Program
Tipo de Documento
Article in Press
Year published
2020
Publicado
in GENETICS IN MEDICINE, ISSN: 1098-3600
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Publication Identifiers
Source Identifiers
ISSN: 1098-3600
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| Name Order | Nome | Name Order | Nome | Name Order | Nome | ||
|---|---|---|---|---|---|---|---|
| 1 | Cappuccio, G; | 2 | Sayou, C; | 3 | Tanno, PL; | ||
| 4 | Tisserant, E; | 5 | Bruel, AL; | 6 | Kennani, SE; | ||
| 7 | Sá, J; | 8 | Low, KJ; | 9 | Dias, C; | ||
| 10 | Havlovicová, M; | 11 | Hančárová, M; | 12 | Eichler, EE; | ||
| 13 | Devillard, F; | 14 | Moutton, S; | 15 | Van Gils, J; | ||
| 16 | Dubourg, C; | 17 | Odent, S; | 18 | Gerard, B; | ||
| 19 | Piton, A; | 20 | Yamamoto, T; | 21 | Okamoto, N; | ||
| 22 | Firth, H; | 23 | Metcalfe, K; | 24 | Moh, A; | ||
| 25 | Chapman, KA; | 26 | Aref Eshghi, E; | 27 | Kerkhof, J; | ||
| 28 | Torella, A; | 29 | Nigro, V; | 30 | Perrin, L; | ||
| 31 | Piard, J; | 32 | Le Guyader, G; | 33 | Jouan, T; | ||
| 34 | Thauvin Robinet, C; | 35 | Duffourd, Y; | 36 | George Abraham, JK; | ||
| 37 | Buchanan, CA; | 38 | Williams, D; | 39 | Kini, U; | ||
| 40 | Wilson, K; | 41 | Nigro, V; | 42 | Brunetti Pierri, N; | ||
| 43 | Casari, G; | 44 | Cappuccio, G; | 45 | Torella, A; | ||
| 46 | Pinelli, M; | 47 | Musacchia, F; | 48 | Mutarelli, M; | ||
| 49 | Carrella, D; | 50 | Vitiello, G; | 51 | Capra, V; | ||
| 52 | Parenti, G; | 53 | Leuzzi, V; | 54 | Selicorni, A; | ||
| 55 | Maitz, S; | 56 | Banfi, S; | 57 | Zollino, M; | ||
| 58 | Montomoli, M; | 59 | Milani, D; | 60 | Romano, C; | ||
| 61 | Tummolo, A; | 62 | De Brasi, D; | 63 | Coppola, A; | ||
| 64 | Santoro, C; | 65 | Peron, A; | 66 | Pantaleoni, C; | ||
| 67 | Castello, R; | 68 | D’Arrigo, S; | 69 | Sousa, SB; | ||
| 70 | Hennekam, RCM; | 71 | Sadikovic, B; | 72 | Thevenon, J; | ||
| 73 | Govin, J; | 74 | Vitobello, A; | 75 | Brunetti Pierri, N; |
