Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.
about
A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome.Branchio-oto-renal syndrome: Comprehensive review based on nationwide surveillance in Japan
P2860
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.
description
2013 nî lūn-bûn
@nan
2013 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մարտին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Branchio-Oto-Renal Syndrome (B ...... vel EYA1 splice site mutation.
@ast
Branchio-Oto-Renal Syndrome (B ...... vel EYA1 splice site mutation.
@en
Branchio-Oto-Renal Syndrome
@nl
type
label
Branchio-Oto-Renal Syndrome (B ...... vel EYA1 splice site mutation.
@ast
Branchio-Oto-Renal Syndrome (B ...... vel EYA1 splice site mutation.
@en
Branchio-Oto-Renal Syndrome
@nl
prefLabel
Branchio-Oto-Renal Syndrome (B ...... vel EYA1 splice site mutation.
@ast
Branchio-Oto-Renal Syndrome (B ...... vel EYA1 splice site mutation.
@en
Branchio-Oto-Renal Syndrome
@nl
P2093
P2860
P356
P1433
P1476
Branchio-Oto-Renal Syndrome (B ...... vel EYA1 splice site mutation.
@en
P2093
Barbara Infante
Elena Ranieri
Eustacchio Montemurno
Francesca Bruno
Giovanni Stallone
Giuseppe Grandaliano
Giuseppe S Netti
Loreto Gesualdo
Maddalena Gigante
Marilena d'Altilia
P2860
P356
10.1186/1471-2369-14-60
P577
2013-03-18T00:00:00Z