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内部出版物
在“
Elsevier电子期刊
”中,
命中:
15
条,耗时:小于0.01 秒
1.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
作者:
Sarah B. Pierce
1
;
2
;
sbpierce@uw.edu
;
Ksenija Gersak
3
;
Rachel Michaelson-Cohen
4
;
Tom Walsh
1
;
2
;
Ming K. Lee
1
;
2
;
Daniel Malach
5
;
Rachel E. Klevit
6
;
Mary-Claire King
1
;
2
;
Ephrat
Levy
-
Lahad
4
刊名:The American Journal of Human Genetics
出版年:2013
2.
XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription
作者:
David Zangen
1
;
;
6
;
;
zangend@hadassah.org.il
;
Yotam Kaufman
2
;
;
3
;
;
6
;
Sharon Zeligson
3
;
;
6
;
Shira Perlberg
3
;
Hila Fridman
2
;
;
3
;
Moein Kanaan
4
;
Maha Abdulhadi-Atwan
1
;
Abdulsalam Abu
;
Libdeh
1
;
Ayal Gussow
5
;
Irit Kisslov
3
;
;
5
;
Liran Carmel
5
;
Paul Renbaum
3
;
Ephrat
Levy
-
Lahad
2
;
;
3
;
;
lahad
@szmc.org.il
刊名:The American Journal of Human Genetics
出版年:2011
3.
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
作者:
Sarah B. Pierce
;
Tom Walsh
;
Karen M. Chisholm
;
Ming K. Lee
;
Anne M. Thornton
;
Agata Fiumara
;
John M. Opitz
;
Ephrat
Levy
-
Lahad
;
Rachel E. Klevit
;
Mary-Claire King
刊名:The American Journal of Human Genetics
出版年:2010
4.
Transcriptional regulation of the murine Presenilin-2 gene reveals similarities and differences to its human orthologue
作者:
Hadile Ounallah-Saad
;
Rachel Beeri
;
Inbal Goshen
;
Raz Yirmiya
;
Paul Renbaum
;
Ephrat
Levy
-
Lahad
关键词:
Presenilin
;
Alzheimer disease
;
Mouse
;
Egr-1
;
Sp1
;
Promoter
;
Fear conditioning
刊名:Gene
出版年:2009
5.
Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1
作者:
Paul Renbaum
;
Efrat Kellerman
;
Ranit Jaron
;
Dan Geiger
;
Reeval Segel
;
Ming Lee
;
Mary Claire King
;
Ephrat
Levy
-
Lahad
刊名:The American Journal of Human Genetics
出版年:2009
6.
New ISSCR Guidelines Underscore Major Principles for Responsible Translational Stem Cell Research
作者:
Insoo Hyun
;
Olle Lindvall
;
Lars Ä
;
hrlund-Richter
;
Elena Cattaneo
;
Marina Cavazzana-Calvo
;
Giulio Cossu
;
Michele De Luca
;
Ira J. Fox
;
Claude Gerstle
;
Robert A. Goldstein
;
Gö
;
ran Hermeré
n ;
Katherine A. High
;
Hyun Ok Kim
;
Hin Peng Lee
;
Ephrat
Levy
-
Lahad
;
Lingsong Li
;
Bernard Lo
;
Daniel R.
刊名:Cell Stem Cell
出版年:2008
7.
Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome
作者:
Ephrat
Levy
-
Lahad
;
Robert S. Wildin
刊名:The Journal of Pediatrics
出版年:2001
8.
BRCA1
germline mutations in women with uterine serous papillary carcinoma
作者:
Lavie
;
Ofer
;
Hornreich
;
Gila
;
Ben Arie
;
Alon
;
Renbaum
;
Paul
;
Levy
-
Lahad
;
Ephrat
;
Beller
;
Uziel
刊名:Obstetrics and Gynecology
出版年:2000
9.
Gilberts syndrome and hyperbilirubinaemia in ABO-incompatible neonates
作者:
Kaplan
;
Michael
;
Hammerman
;
Cathy
;
Renbaum
;
Paul
;
Klein
;
Gaya
;
Levy
-
Lahad
;
Ephrat
刊名:The Lancet
出版年:2000
10.
Is Uterine Serous Papillary Carcinoma a BRCA1-Related Disease? Case Report and Review of the Literature
作者:
Hornreich
;
Gila
;
Beller
;
Uziel
;
Lavie
;
Ofer
;
Renbaum
;
Paul
;
Cohen
;
Yoram
;
Levy
-
Lahad
;
Ephrat
刊名:Gynecologic Oncology
出版年:1999
1
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