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2 research outputs found
A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex
Author
AK Chong
EF Pettersen
+15 more
J Motoyoma
JJ Johnston
K Balk
LG Biesecker
LG Biesecker
LG Biesecker
LG Biesecker
Michael Volodarsky
N Takafumi
Ohad S Birk
R Sheth
RP Shubha
SK Sethi
Yshaia Langer
Z Wang
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
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Crossref
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation
Author
A Mota
B Mackenzie
+24 more
B Markus
Barak Markus
G Holmström
G Querques
Hagit Flusser
Idan Cohen
J Kyte
J Schultz
J Yu Liu
JG Abbink
K Nakai
Libe Gradstein
M Feinstein
M Silberstein
M Volodarsky
MA Larkin
MG Thomas
Mira Marcus
N Azuma
Ohad S Birk
Rotem Kadir
Tova Lifshitz
Yonatan Perez
Yshaia Langer
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref