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CNKI学位论文(1)
在“
Elsevier电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1
条
1.
Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
作者:
Susanne Roosing
;
Klaus Rohrschneider
;
Avigail
Bery
ozkin
;
Dror Sharon
;
Nicole Weisschuh
;
Jennifer Staller
;
Susanne Kohl
;
Lina Zelinger
;
Theo?A. Peters
;
Kornelia Neveling
;
Tim?M. Strom
;
European Retinal Disease Consortium
;
L.?Ingeborgh van?den?Born
;
Carel?B. Hoyng
;
Caroline?C.W. Klaver
;
Ronald Roepman
;
Bernd Wissinger
;
Eyal Banin
;
Frans?P.M. Cremers
;
Anneke?I. den?Holl
;
er
;
et al.
刊名:The American Journal of Human Genetics
出版年:2013
2.
Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa
作者:
Rı
;
za
;
Kö
;
ksal Ö
;
zgü
;
l
1
;
10
;
Anna
;
M. Siemiatkowska
2
;
3
;
10
;
Didem Yü
;
cel
1
;
10
;
Connie
;
A. Myers
4
;
Rob
;
W.J. Collin
2
;
3
;
5
;
Marijke
;
N. Zonneveld
2
;
3
;
Avigail
Bery
ozkin
6
;
Eyal Banin
6
;
Carel
;
B. Hoyng
5
;
L.
;
Ingeborgh van
;
den
;
Born
7
;
The European Retinal Disease Consortium
9
;
Ron Bose
8
;
Wei Shen
8
;
Dror Sharon
6
;
Frans
;
P.M. Cremers
2
;
3
;
B.
;
Jeroen Klevering
5
;
Anneke
;
I. den
;
Hollander
2
;
3
;
5
;
a.denhollander@antrg.umcn.nl"" rel=""nofollow
;
Joseph
;
C. Corbo
4
;
jcorbo@pathology.wustl.edu"" rel=""nofollow
刊名:The American Journal of Human Genetics
出版年:2011
3.
A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
作者:
Lina Zelinger
1
;
Eyal Banin
1
;
Alexey Obolensky
1
;
Liliana Mizrahi-Meissonnier
1
;
Avigail
Bery
ozkin
1
;
Dikla Bandah-Rozenfeld
1
;
Shahar Frenkel
1
;
Tamar Ben-Yosef
2
;
Saul Merin
1
;
Sharon B. Schwartz
3
;
Artur V. Cideciyan
3
;
Samuel G. Jacobson
3
;
jacobsos@mail.med.upenn.edu
;
Dror Sharon
1
;
dror.sharon1@gmail.com
刊名:The American Journal of Human Genetics
出版年:2011
1
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