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Phenotypic Spectrum Associated with Specc1L Pathogenic Variants: New Families and Critical Review of the Nosology of Teebi, Opitz Gbbb, and Baraitser-Winter Syndromes
AuthID
P-00Q-129
P-00Q-129
27
Author(s)
Bhoj, EJ
·Haye, D
·Toutain, A
·Bonneau, D
·Nielsen, IK
·Bogaard, P
·[+1]·
[+2]·
[+3]·
[+1]·
Li, D
·Callier, P
·Drunat, S
·Verloes, A
Document Type
Review
Year published
2019
Published
in EUROPEAN JOURNAL OF MEDICAL GENETICS, ISSN: 1769-7212
Volume: 62, Issue: 12
Indexing
Publication Identifiers
Pubmed: 30472488
Scopus: 2-s2.0-85058702309
Wos: WOS:000496913300002
Source Identifiers
ISSN: 1769-7212
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| Name Order | Name | Name Order | Name | Name Order | Name | ||
|---|---|---|---|---|---|---|---|
| 1 | Bhoj, EJ; | 2 | Haye, D; | 3 | Toutain, A; | ||
| 4 | Bonneau, D; | 5 | Nielsen, IK; | 6 | Lund, IB; | ||
| 7 | Bogaard, P; | 8 | Leenskjold, S; | 9 | Karaer, K; | ||
| 10 | Wild, KT; | 11 | Grand, KL; | 12 | Astiazaran, MC; | ||
| 13 | Gonzalez Nieto, LA; | 14 | Carvalho, A; | 15 | Lehalle, D; | ||
| 16 | Amudhavalli, SM; | 17 | Repnikova, E; | 18 | Saunders, C; | ||
| 19 | Thiffault, I; | 20 | Saadi, I; | 21 | Li, D; | ||
| 22 | Hakonarson, H; | 23 | Vial, Y; | 24 | Zackai, E; | ||
| 25 | Callier, P; | 26 | Drunat, S; | 27 | Verloes, A; |
