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内部出版物
SpringerLink电子期刊(3)
Elsevier电子期刊(15)
在“
Elsevier电子期刊
”中,
命中:
15
条,耗时:小于0.01 秒
在所有数据库中总计命中:
18
条
1.
Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders
作者:
Daniel C. Koboldt
1
;
dkoboldt@genome.wustl.edu" class="auth_mail
;
David E. Larson
1
;
Lori S. Sullivan
2
;
Sara J. Bowne
2
;
Karyn M. Steinberg
1
;
Jennifer D. Churchill
2
;
Aimee C. Buhr
2
;
Nathan Nutter
1
;
Eric A. Pierce
3
;
Susan H. Blanton
4
;
George M. Weinstock
1
;
Richard K. Wilson
1
;
Stephen
P.
Daiger
2
;
stephen
.p.
daiger
@uth.tmc.edu" class="auth_mail
刊名:The American Journal of Human Genetics
出版年:6 March, 2014
2.
A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa
作者:
S. Amer Riazuddin
;
Muhammad Iqbal
;
Yue Wang
;
Tomohiro Masuda
;
Yuhng Chen
;
Sara Bowne
;
Lori S. Sullivan
;
Naushin H. Waseem
;
Shomi Bhattacharya
;
Stephen
P.
Daiger
;
Kang Zhang
;
Shaheen N. Khan
;
Sheikh Ri
刊名:The American Journal of Human Genetics
出版年:2010
3.
Retinal isoforms of inosine 5′-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins
作者:
Dong Xu
;
Garrett Cobb
;
Catherine J. Spellicy
;
Sara J. Bowne
;
Stephen
P.
Daiger
;
Lizbeth Hedstrom
关键词:
Retinitis pigmentosa
;
IMP dehydrogenase
;
Retinal degeneration
;
Nucleic acid binding protein
刊名:Archives of Biochemistry and Biophysics
出版年:2008
4.
Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs
作者:
Chen Zhao
;
Deepti L. Bellur
;
Shasha Lu
;
Feng Zhao
;
Michael A. Grassi
;
Sara J. Bowne
;
Lori S. Sullivan
;
Stephen
P.
Daiger
;
Li Jia Chen
;
Chi Pui Pang
;
Kanxing Zhao
;
Jonathan P. Staley
;
Catharina Larsson
刊名:The American Journal of Human Genetics
出版年:2009
5.
590: The influence of race on the rate of abnormal serum screens
作者:
Alyssa Knisley
;
Manju Monga
;
Terri King
;
Stephen
Daiger
;
Melissa Strassberg
;
Jennifer Hoskovec
刊名:American Journal of Obstetrics and Gynecology
出版年:2007
6.
Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene
作者:
Petra Kozma
;
Dianna K. Hughbanks-Wheaton
;
Kirsten G. Locke
;
Garry E. Fish
;
Anisa I. Gire
;
Catherine J. Spellicy
;
Lori S. Sullivan
;
Sara J. Bowne
;
Stephen
P.
Daiger
and David G. Birch
刊名:American Journal of Ophthalmology
出版年:2005
7.
Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina
作者:
Sears
;
Jonathan E.
;
Aaberg Sr
;
Thomas A.
;
Daiger
;
Stephen
P.
;
Moshfeghi
;
Darius M.
刊名:American Journal of Ophthalmology
出版年:2001
8.
Remapping of the RP15
作者:
Alan J. Mears
;
Suja Hiriyanna
;
Raf Vervoort
;
Beverly Yashar
;
Linn Gieser
;
Stacey Fahrner
;
Stephen
P.
Daiger
;
John R. Heckenlively
;
Paul A. Sieving
;
Alan F. Wright
;
An
;
Swaroop
刊名:The American Journal of Human Genetics
出版年:2000
9.
Inherited retinal diseases in humans
作者:
Stephen
P
Daiger
刊名:European Journal of Paediatric Neurology
出版年:2000
10.
Localization of Retina/Pineal-Expressed Sequences: Identification of Novel Candidate Genes for Inherited Retinal Disorders
作者:
Sohocki
;
Melanie M.
;
Malone
;
Kimberly A.
;
Sullivan
;
Lori S.
;
Daiger
;
Stephen
P.
刊名:Genomics
出版年:1999
1
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