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内部出版物
SpringerLink电子期刊(3)
Elsevier电子期刊(13)
在“
Elsevier电子期刊
”中,
命中:
13
条,耗时:小于0.01 秒
在所有数据库中总计命中:
16
条
1.
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association
作者:
Christina S. Yee
;
MD
;
PhD
a
;
Michel J. Massaad
;
PhD
a
;
Wayne Bainter
;
BA
a
;
Toshiro K. Ohsumi
;
PhD
b
;
Niko Fö
;
ger
;
PhD
c
;
Andrew C. Chan
;
MD
;
PhD
d
;
Nurten
A.
Akarsu
;
MD
e
;
Caner Aytekin
;
MD
f
;
Deniz Ç
;
agdas Ayvaz
;
MD
;
PhD
g
;
Ilhan Tezcan
;
MD
;
PhD
g
;
Ö
;
zden Sanal
;
MD
g
;
&lowast
;
;
Raif S. Geha
;
MD
a
;
&lowast
;
;
Raif.Geha@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author
;
Janet Chou
;
MD
a
;
&lowast
;
关键词:
Coronin-1A
;
immunodeficiency
;
T-cell lymphopenia
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
2.
Coronin-1A Oligomerization Is Critical For Host Defense Against Viral Pathogens
作者:
Christina S.K. Yee
;
Ozden Sanal
;
Janet S. Chou
;
Raif S. Geha
;
Deniz Ayvaz
;
Caner Aytekin
;
A.
Nurten
Akarsu
刊名:Journal of Allergy and Clinical Immunology
出版年:February, 2014
3.
Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome
作者:
Ersan Kalay
1
;
ersankalay@hotmail.com
;
Orhan Sezgin
2
;
Vasant Chellappa
3
;
Mehmet Mutlu
4
;
Heba Morsy
5
;
Hulya Kayserili
6
;
Elmar Kreiger
7
;
Aysegul Cansu
8
;
Bayram Toraman
2
;
Ebtesam
;
Mohammed Abdalla
5
;
Yakup Aslan
4
;
Shiv Pillai
3
;
Nurten
;
A.
Akarsu
9
刊名:The American Journal of Human Genetics
出版年:2012
4.
Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
作者:
P.V. Asharani
1
;
10
;
Katharina Keupp
2
;
3
;
4
;
10
;
Oliver Semler
5
;
Wenshen Wang
1
;
Yun Li
2
;
3
;
4
;
Holger Thiele
6
;
Gö
;
khan Yigit
2
;
3
;
4
;
Esther Pohl
2
;
3
;
4
;
Jutta Becker
3
;
Peter Frommolt
4
;
6
;
Carmen Sonntag
7
;
12
;
Janine Altmü
;
ller
6
;
Katharina Zimmermann
3
;
Daniel
;
S. Greenspan
8
;
Nurten
;
A.
Akarsu
9
;
Christian Netzer
3
;
Eckhard Schö
;
nau
5
;
Radu Wirth
3
;
Matthias Hammerschmidt
2
;
4
;
7
;
Peter Nü
;
rnberg
2
;
4
;
6
;
Bernd Wollnik
2
;
3
;
4
;
11
;
bwollnik@uni-koeln.de
;
Thomas
;
J. Carney
1
;
11
;
tcarney@imcb.a-star.edu.sg
刊名:The American Journal of Human Genetics
出版年:2012
5.
Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome
作者:
Fatih Ozaltin
1
;
2
;
fozaltin@hacettepe.edu.tr"" rel=""nofollow
;
Tulin Ibsirlioglu
2
;
Ekim
;
Z. Taskiran
3
;
Dilek
;
Ertoy Baydar
4
;
Figen Kaymaz
5
;
Mithat Buyukcelik
6
;
Beltinge
;
Demircioglu Kilic
6
;
Ayse Balat
6
;
Paraskevas Iatropoulos
7
;
Esin Asan
5
;
Nurten
;
A.
Akarsu
8
;
Franz Schaefer
9
;
Engin Yilmaz
3
;
Ayş
;
in Bakkaloglu
1
;
the PodoNet Consortium
10
刊名:The American Journal of Human Genetics
出版年:2011
6.
The effect of depression, BDNF gene val66met polymorphism and gender on serum BDNF levels
作者:
Erol Ozan
;
Hamza Okur
;
Ç
;
ağ
;
daş
;
Eker
;
Ö
;
zlem D. Eker
;
Ali Saffet Gö
;
nü
l ;
Nurten
Akarsu
关键词:
val66met polymorphism
;
Depression
;
Serum BDNF
刊名:Brain Research Bulletin
出版年:2010
7.
Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
作者:
Hulya Gundesli
;
Beril Talim
;
Petek Korkusuz
;
Burcu Balci-Hayta
;
Sebahattin Cirak
;
Nurten
A.
Akarsu
;
Haluk Topaloglu
;
Pervin Dincer
刊名:The American Journal of Human Genetics
出版年:2010
8.
Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations
作者:
Hamza Okur
;
Gunay Balta
;
Nurten
Akarsu
;
Ahmet Oner
;
Turkan Patiroglu
;
Ali Bay
;
Tulin Sayli
;
Sule Unal
;
Aytemiz Gurgey
关键词:
FHL
;
Perforin gene
;
Mutations
;
Clinical presentations
刊名:Leukemia Research
出版年:2008
9.
06-P029 Congenital hypertelorism & osteopenia, a novel autosomal recessive disease of development
作者:
Carine Bonnard
;
Mohammad Shboul
;
Nurten
Akarsu
;
Hulya Kayserili
;
Barry Merriman
;
Hane Lee
;
Hanan Hamamy
;
Bruno Reversade
刊名:Mechanisms of Development
出版年:2009
10.
Disease causing nature of homozygous missense, p.A523D, alteration in the perforin gene
作者:
Ahmet Faik Oner
;
Hamza Okur
;
Gunay Balta
;
Sule Unal
;
Ibrahim Deger
;
Nurten
Akarsu
;
Aytemiz Gurgey
刊名:Leukemia Research
出版年:2009
1
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