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在“
Elsevier电子期刊
”中,
命中:
9
条,耗时:小于0.01 秒
1.
Clinical and
M
olecular Characteristics of Mitochondrial DNA Depletion Syndro
m
e Associated with Neonatal Cholestasis and Liver Failure
作者:
Abdulrah
m
an Al-Hussaini
;
M
D
1
;
aa_alhussaini@yahoo.co
m
" class="auth_
m
ail
;
Eissa Faqeih
;
M
D
2
;
Ay
m
an W. El-Hattab
;
M
D
2
;
M
ajid Alfadhel
3
;
Ali Asery
;
M
D
1
;
Badr Alsalee
m
;
M
D
1
;
E
m
an Bakhsh
;
M
D
4
;
Ashraf Ali
;
M
D
5
;
Ali Alas
m
ari
;
M
D
2
;
Khurra
m
Lone
;
M
D
1
;
Ah
m
ed Nahari
;
M
D
1
;
Wafaa
Eyaid
;
M
D
3
;
M
oha
mm
ed Al Balwi
;
M
D
5
;
6
;
Kate Craig
;
PhD
7
;
Anna Butterworth
;
BSc
7
;
Langping He
;
PhD
7
;
Robert W. Taylor
;
PhD
;
FRCPath
7
关键词:
ATP
;
Adenosine triphosphate
;
DGUOK
;
Deoxyguanosine kinase
;
M
DS
;
M
itochondrial DNA depletion syndro
m
e
;
M
RI
;
M
agnetic resonance i
m
aging
;
m
tDNA
;
M
itochondrial DNA
刊名:The Journal of Pediatrics
出版年:
M
arch, 2014
2.
M
utations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
作者:
Penelope?E. Bonnen
;
John?W. Yarha
m
;
Arnaud Besse
;
Ping Wu
;
Eissa?A. Faqeih
;
Ali?
M
oha
mm
ad Al-As
m
ari
;
M
oha
mm
ad?A.M. Saleh
;
Wafaa
Eyaid
;
Alrukban Hadeel
;
Langping He
;
Frances S
m
ith
;
Shu Yau
;
Eve?
M
. Si
m
cox
;
Sato
m
i Miwa
;
Taraka Donti
;
Khaled?K. Abu-A
m
ero
;
Lee-Jun Wong
;
Willia
m
?J. Craigen
;
Brett?H. Graha
m
;
Kenneth?L. Scott
;
et al.
刊名:The A
m
erican Journal of Hu
m
an Genetics
出版年:2013
3.
M
utations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
作者:
Penelope?E. Bonnen
;
John?W. Yarha
m
;
Arnaud Besse
;
Ping Wu
;
Eissa?A. Faqeih
;
Ali?
M
oha
mm
ad Al-As
m
ari
;
M
oha
mm
ad?A.M. Saleh
;
Wafaa
Eyaid
;
Alrukban Hadeel
;
Langping He
;
Frances S
m
ith
;
Shu Yau
;
Eve?
M
. Si
m
cox
;
Sato
m
i Miwa
;
Taraka Donti
;
Khaled?K. Abu-A
m
ero
;
Lee-Jun Wong
;
Willia
m
?J. Craigen
;
Brett?H. Graha
m
;
Kenneth?L. Scott
;
et al.
刊名:The A
m
erican Journal of Hu
m
an Genetics
出版年:2013
4.
Exo
m
e Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndro
m
e
作者:
M
.?Chiara Manzini
;
Di
m
ira?E. Ta
m
bunan
;
R.?Sean Hill
;
Ti
m
?W. Yu
;
Tho
m
as?M. Maynard
;
Erin?L. Heinzen
;
Kevin?V. Shianna
;
Christine?R. Stevens
;
Jennifer?N. Partlow
;
Brenda?J. Barry
;
Jacqueline Rodriguez
;
V
;
ana?A. Gupta
;
Abdel-Kari
m
Al-Qudah
;
Wafaa
?
M
.
Eyaid
;
Jan?
M
. Fried
m
an
;
M
ustafa?A. Salih
;
Robin Clark
;
Isabella
M
oroni
;
M
arina Mora
;
Alan?H. Beggs
;
et al.
刊名:The A
m
erican Journal of Hu
m
an Genetics
出版年:2012
5.
The Genetic Basis of a Craniofacial Disease Provides Insight into COPII Coat Asse
m
bly
作者:
J. Christopher Fro
mm
e
;
M
ariella Ravazzola
;
Susan Ha
m
a
m
oto
;
M
oha
mm
ed Al-Balwi
;
Wafaa
Eyaid
;
Si
m
eon A. Boyadjiev
;
Pierre Cosson
;
R
;
y Schek
m
an
;
Lelio Orci
刊名:Develop
m
ental Cell
出版年:2007
6.
An inborn error of
m
etabolis
m
presenting as hypoxic-ische
m
ic insult
作者:
Eyaid
;
Wafaa
M
.
;
Al-Nouri
;
Doha
M
.
;
Rashed
;
M
oha
m
ed S.
;
Al-Rifai
;
M
uha
mm
ad T.
;
Al-Wakeel
;
Anwar S.
刊名:Pediatric Neurology
出版年:2005
7.
Identification and Functional Analysis of a Defect in the Hu
m
an ALG9
作者:
Christian G. Frank
;
Wafaa
Eyaid
;
Eric G. Berger
;
M
arkus Aebi
;
Claudia E. Gruben
m
ann
;
Thierry Hennet
刊名:The A
m
erican Journal of Hu
m
an Genetics
出版年:2004
8.
Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndro
m
e
作者:
Reza Yagh
m
ai
;
Arash Ki
m
yai-Asadi
;
Karoline Rosta
m
iani
;
Nina S. Heiss
;
Anne
m
arie Poustka
;
Wafaa
Eyaid
;
Joann Bodurtha
;
Hossein C. Nousari
;
Ada Ha
m
osh
;
Aida
M
etzenberg
刊名:The Journal of Pediatrics
出版年:2000
9.
M
utation Analysis of LMX1B Gene in Nail-Patella Syndro
m
e Patients
作者:
Iain
M
cIntosh
;
S
;
ra D. Dreyer
;
M
ark V. Clough
;
Jennifer A. Dunston
;
Wafa'a
Eyaid
;
Car
m
en M. Roig
;
Tara
M
ontgo
m
ery
;
Sirpa Ala-
M
ello
;
Ilkka Kaitila
;
Andreas Winterpacht
;
Bernhard Zabel
;
M
oshe Fryd
m
an
;
Willia
m
G. Cole
;
Clair A. Franco
m
ano
;
Brendan Lee
刊名:The A
m
erican Journal of Hu
m
an Genetics
出版年:1998
1
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2004年(1)
2000年(1)
2000年及以前(1)
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