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1.
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
作者:
Sarah M Nikkel (1)
Andrew Dauber (2)
Sonja de Munnik (3)
Meghan Connolly (4)
Rebecca L Hood (5)
Oana Caluseriu (6)
Jane Hurst (7)
Usha Kini (8)
Malgorzata JM Nowaczyk (9)
Alexandra Afenjar (10)
Beate Albrecht (11)
Judith E Allanson (1)
Paolo Balestri (12)
Tawfeg Ben-Omran (13)
Francesco Brancati (14) (15)
Isabel Cordeiro (16)
Bruna Santos da Cunha (17)
Louisa A Delaney (17)
Anne Destrée (18)
David Fitzpatrick (19)
Francesca Forzano (20)
Neeti
Ghali
(21)
Greta Gillies (22)
Katerina Harwood (23)
Yvonne MC Hendriks (24)
Delphine Héron (25)
Alexander Hoischen (26)
Engela Magdalena Honey (27)
Lies H Hoefsloot (3)
Jennifer Ibrahim (28)
Claire M Jacob (29)
Sarina G Kant (30)
Chong Ae Kim (31)
Edwin P Kirk (32)
Nine VAM Knoers (33)
Didier Lacombe (34)
Chung Lee (35)
Ivan FM Lo (36)
Luiza S Lucas (17)
Francesca Mari (12)
Veronica Mericq (37)
Jukka S Moilanen (38)
Sanne Traasdahl M?ller (39)
Stephanie Moortgat (18)
Daniela T Pilz (40)
Kate Pope (22)
Susan Price (41)
Alessandra Renieri (12)
Joaquim Sá (42)
Jeroen Schoots (3)
Elizabeth L Silveira (43)
Marleen EH Simon (44)
Anne Slavotinek (35)
I Karen Temple (45)
Ineke van der Burgt (3)
Bert BA de Vries (3)
James D Weisfeld-Adams (46)
Margo L Whiteford (47)
Dagmar Wierczorek (11)
Jan M Wit (48)
Connie Fung On Yee (36)
Chandree L Beaulieu (5)
Sue M White (49)
Dennis E Bulman (5)
Ernie Bongers (3)
Han Brunner (3)
Murray Feingold (50)
Kym M Boycott (1) (5)
关键词:
SRCAP
;
Floating Harbor syndrome
;
Phenotype
;
Short stature
刊名:Orphanet Journal of Rare Diseases
出版年:2013
1
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作者(1)
按出版年细分(1)
2013年(1)
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