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CNKI学位论文(2)
在“
Elsevier电子期刊
”中,
命中:
10
条,耗时:0.0429776 秒
在所有数据库中总计命中:
2
条
1.
Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier
作者:
Mohammad Al-Haggar
;
Carlo R. Largiad猫r
;
Dina Abdel-Hady
;
Tarik Barakat
;
Jean
-
Marc
Nuoffer
;
Abdel-Aziz Al-Refaei
关键词:
Female carrier
;
Menstrual neurologic symptoms
;
Ornithine transcarbamylase deficiency
刊名:International Journal of Gynecology and Obstetrics
出版年:February, 2014
2.
Stunted Growth, Splenomegaly, and Interstitial Pneumopathy
作者:
Christiane Sokollik
1
;
Dominik Mü
;
ller-Suter
1
;
Jean
-
Marc
Nuoffer
1
;
2
刊名:Gastroenterology
出版年:2014
3.
Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
作者:
Benjamin Nota
1
;
18
;
benjamin.nota@gmail.com
;
Eduard A. Struys
1
;
18
;
Ana Pop
1
;
Erwin E. Jansen
1
;
Matilde R. Fernandez Ojeda
1
;
Warsha A. Kanhai
1
;
Martijn Kranendijk
1
;
Silvy J.M. van Dooren
1
;
Marianna R. Bevova
2
;
Erik A. Sistermans
2
;
Aggie W.M. Nieuwint
2
;
Magalie Barth
3
;
Tawfeg Ben-Omran
4
;
Georg F. Hoffmann
5
;
Pascale de Lonlay
6
;
Marie T. McDonald
7
;
Alf Meberg
8
;
Ania C. Muntau
9
;
Jean
-
Marc
Nuoffer
10
;
Rossella Parini
11
;
Marie-Hé
;
lè
;
ne Read
12
;
Axel Renneberg
13
;
René
;
Santer
14
;
Thomas Strahleck
15
;
Emile van Schaftingen
16
;
Marjo S. van der Knaap
17
;
Cornelis Jakobs
1
;
Gajja S. Salomons
1
;
g.salomons@vumc.nl
刊名:The American Journal of Human Genetics
出版年:2013
4.
Comparison of Pro-Atrial Natriuretic Peptide and Atrial Remodeling in Marathon Versus Non-Marathon Runners
作者:
Matthias Wilhelm
;
MD
a
;
matthias.wilhelm@insel.ch
;
Jean
-
Marc
Nuoffer
;
MD
b
;
Jean
-Paul Schmid
;
MD
a
;
Ilca Wilhelm
;
MD
c
;
Hugo Saner
;
MD
a
刊名:The American Journal of Cardiology
出版年:2012
5.
Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet
作者:
Ziv Ben-Ari
;
Adam Dalal
;
Ady Morry
;
Silvio Pitlik
;
Pierre Zinger
;
Jonathan Cohen
;
Ittai Fattal
;
Ronit Galili-Mosberg
;
Debora Tessler
;
Ruth Gershoni Baruch
;
Jean
-
Marc
Nuoffer
;
Carlo R. Largiader
;
Hanna
关键词:
Atkins diet
;
OTC
;
Deficiency
刊名:Journal of Hepatology
出版年:2010
6.
Recurrent Unexplained Episodes of Facial Cyanosis and Shortness of Breath in Hunter Disease
作者:
Giacomo D.Simonetti
;
Carmen Casaulta
;
Jean
-
Marc
Vuissoz
;
Mario G. Bianchetti
;
Jean
-
Marc
Nuoffer
刊名:The Journal of Pediatrics
出版年:2009
7.
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency
作者:
Katharina Engel
;
Jean
-
Marc
Nuoffer
;
Chris Mü
;
hlhausen
;
Vera Klaus
;
Carlo R. Largiadè
r ;
Konstantinos Tsiakas
;
René
;
Santer
;
Bendicht Wermuth
;
Johannes Hä
;
berle
关键词:
Ornithine transcarbamylase
;
mRNA analysis
;
Liver biopsy
;
Urea cycle defect
刊名:Molecular Genetics and Metabolism
出版年:2008
8.
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies
作者:
Schmidt
;
Eva
;
Nuoffer
;
Jean
-
Marc
;
H??berle
;
Johannes
;
Pauli
;
Silke
;
Guffon
;
Nathalie
;
Vianey-Saban
;
Christine
;
et. al.
关键词:
NAGS
;
Hyperammonemia
;
NAGS deficiency
刊名:BBA - Molecular Basis of Disease
出版年:2005
9.
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal
作者:
Markus A. L
;
olt
;
Jean
-
Marc
Nuoffer
;
Beat Steinmann
;
Andrea Superti-Furga
刊名:The Journal of Pediatrics
出版年:2002
10.
Regulation of human growth hormone receptor gene transcription by human growth hormone binding protein
作者:
Mullis
;
Primus E.
;
Wagner
;
Johannes K.
;
Eblé
;
André
e ;
Nuoffer
;
Jean
-
Marc
;
Postel-Vinay
;
Marie-Catherine
关键词:
Growth hormone binding protein
;
GH receptor
;
Transcription
;
Regulation
;
Expression
;
Hepatoma cell line
刊名:Molecular and Cellular Endocrinology
出版年:1997
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