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内部出版物
SpringerLink电子期刊(3)
NATURE电子期刊(1)
Elsevier电子期刊(12)
在“
Elsevier电子期刊
”中,
命中:
12
条,耗时:小于0.01 秒
在所有数据库中总计命中:
16
条
1.
Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated
J
uvenile Myelomonocytic Leukemia
作者:
Sonia Mulero-Navarro
1
;
7
;
Ana Sevilla
2
;
4
;
Angel C. Roman
8
;
Dung-Fang Lee
2
;
4
;
Sunita L. D&rsquo
;
Souza
2
;
4
;
Sherly Pardo
9
;
Ilan Riess
10
;
J
ie Su
2
;
4
;
Ninette Cohen
3
;
Christoph Schaniel
2
;
4
;
5
;
Nelson A. Rodriguez
1
;
Alessia Baccarini
3
;
Brian D. Brown
3
;
Hé
;
lè
;
ne Cavé
;
11
;
12
;
Auré
;
lie Caye
11
;
12
;
Marion Strullu
11
;
12
;
Safak Yalcin
13
;
Christopher Y. Park
13
;
Perundurai S. Dhandapany
1
;
Ge Yongchao
6
;
Lisa
Edelmann
3
;
Sawsan Bahieg
3
;
Patrick Raynal
14
;
E
lisa
betta Flex
15
;
Marco Tartaglia
15
;
16
;
Kateri A. Moore
2
;
4
;
Ihor R. Lemischka
2
;
4
;
5
;
17
;
Bruce D. Gelb
1
;
3
;
7
;
17
;
bruce.gelb@mssm.edu" class="auth_mail" title="E-mail the corresponding author
刊名:Cell Reports
出版年:2015
2.
Setleis Syndrome: Genetic and Clinical Findings in a New Case With Epilepsy
作者:
Lucio Giordano
;
MD
a
;
Robert
J
. Desnick
;
MD PhD
b
;
Anna Molinaro
;
MD
a
;
anna.molinaro@gmail.com" class="auth_mail
;
Vera Uliana
;
MD
c
;
Francesca Forzano
;
MD
c
;
Lisa
Edelmann
;
MD PhD
b
;
Irene Nazarenko
;
MS
b
;
Lorenzo Pinelli
;
MD
d
;
Patrizia Accorsi
;
MD
a
;
Francesca Faravelli
;
MD
c
关键词:
focal facial dermal dysplasias
;
Setleis syndrome
;
epilepsy
;
developmental delay
;
TWIST2 gene
刊名:Pediatric Neurology
出版年:April, 2014
3.
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1
作者:
Tracy Br
t ;
Leah Blanchard
;
Khyati Desai
;
Saro
j
Nimkarn
;
Ninette Cohen
;
Lisa
Edelmann
;
Lakshmi Mehta
关键词:
NR5A1
;
SF1
;
46
;
XY disorder of sex development
;
46
;
XY DSD
;
9q33 Microdeletion
刊名:European
J
ournal of Medical Genetics
出版年:November, 2013
4.
In vitro
作者:
Lisa
M. Schimanski
;
Hal Drakesmith
;
Emma Sweetl
;
J
udy Bastin
;
Dellel Rezgui
;
Mariola
Edelmann
;
Benedikt Kessler
;
Alison T. Merryweather-Clarke
;
Kathryn
J
.H. Robson
;
Alain R.M. Townsend
关键词:
HFE
;
Tetramer
;
Transferrin receptor
;
Cation independent mannose-6-phosphate receptor
;
Mannose-6 phosphate
刊名:Blood Cells, Molecules, and Diseases
出版年:2009
5.
DIASTOLIC FUNCTION ALONG THE DIABETIC SPECTRUM
作者:
Raoul Stahrenberg
;
Meinhard Mende
;
Frank
Edelmann
;
Lisa
Schoenbrunn
;
Gerd Hasenfuss
;
Burkert Pieske
;
Rolf Wachter
刊名:
J
ournal of the American College of Cardiology
出版年:2010
6.
Warfarin Pharmacogenetics: CYP2C9
作者:
Stuart A. Scott
;
Lisa
Edelmann
;
Ruth Kornreich
;
Robert
J
. Desnick
刊名:The American
J
ournal of Human Genetics
出版年:2008
7.
578: Correlation of CVS morphology with pregnancy outcome and karyotypic abnormalities
作者:
Victoria Belogolovkin
;
Lauren Ferrara
;
Claire McClung
;
Lisa
Edelmann
;
Erin Moshier
;
Kate
J
l ;
Keith A. Eddleman
;
J
oanne Stone
刊名:American
J
ournal of Obstetrics and Gynecology
出版年:2007
8.
Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi
J
ewish Population
作者:
Lisa
Edelmann
;
J
ianli Dong
;
Robert
J
. Desnick
;
Ruth Kornreich
刊名:The American
J
ournal of Human Genetics
出版年:2002
9.
Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi
J
ewish Population
作者:
Lisa
Edelmann
;
Melissa P. Wasserstein
;
Ruth Kornreich
;
Claude Sansaricq
;
Selma E. Snyderman
;
George A. Diaz
刊名:The American
J
ournal of Human Genetics
出版年:2001
10.
PRENATAL GENETIC SCREENING IN THE ASHKENAZI
J
EWISH POPULATION
作者:
Randi E. Zinberg
;
MS
a
;
Ruth Kornreich
;
PhD
a
;
Lisa
Edelmann
;
PhD
a
;
Robert
J
. Desnick
;
MD
;
PhD
a
刊名:Clinics in Perinatology
出版年:2001
1
2
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