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内部出版物
CNKI学位论文(2)
知网期刊论文(3)
在“
Elsevier电子期刊
”中,
命中:
21
条,耗时:小于0.01 秒
在所有数据库中总计命中:
5
条
1.
Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator
作者:
Berati Cerikan
1
;
2
;
Ranad
Shaheen
3
;
Georgina P. Colo
5
;
Christine Glä
;
ß
;
er
1
;
Shoji Hata
1
;
Klaus-Peter Knobeloch
4
;
Fowzan S. Alkuraya
3
;
Reinhard Fä
;
ssler
5
;
Elmar Schiebel
1
;
6
;
e.schiebel@zmbh.uni-heidelberg.de" class="auth_mail" title="E-mail the corresponding author
刊名:Developmental Cell
出版年:2016
2.
Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans
作者:
Ranad
Shaheen
;
Hanan聽E. Shamseldin
;
Catrina聽M. Loucks
;
Mohammed聽Zain Seidahmed
;
Shinu Ansari
;
Mohamed Ibrahim聽Khalil
;
Nadya Al-Yacoub
;
Erica聽E. Davis
;
Natalie聽A. Mola
;
Katarzyna Szymanska
;
Warren Herridge
;
Albert聽E. Chudley
;
Bernard聽N. Chodirker
;
Jeremy Schwartzentruber
;
Jacek Majewski
;
Nicholas Katsanis
;
Coralie Poizat
;
Colin聽A. Johnson
;
Jillian Parboosingh
;
Kym聽M. Boycott
;
A.聽Micheil Innes
;
et al.
刊名:The American Journal of Human Genetics
出版年:2 January, 2014
3.
Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH
作者:
Ranad
Shaheen
1
;
Zuhair Rahbeeni
2
;
Amal Alhashem
4
;
Eissa Faqeih
3
;
Qi Zhao
5
;
Yong Xiong
5
;
Agaadir Almoisheer
1
;
Sarah M. Al-Qattan
1
;
Halima A. Almadani
8
;
Noufa Al-Onazi
4
;
Badi S. Al-Baqawi
6
;
Mohammad Ali Saleh
3
;
Fowzan S. Alkuraya
1
;
7
;
falkuraya@kfshrc.edu.sa" class="auth_mail
刊名:The American Journal of Human Genetics
出版年:5 June 2014
4.
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
作者:
Ranad
Shaheen
1
;
Mona Aglan
2
;
Kim Keppler-Noreuil
3
;
Eissa Faqeih
4
;
Shinu Ansari
1
;
Kim Horton
5
;
Adel Ashour
2
;
Maha S. Zaki
2
;
Fatema Al-Zahrani
1
;
Anna M. Cueto-Gonzá
;
lez
6
;
Ghada Abdel-Salam
2
;
Samia Temtamy
2
;
Fowzan S. Alkuraya
1
;
7
;
falkuraya@kfshrc.edu.sa
刊名:The American Journal of Human Genetics
出版年:2013
5.
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
作者:V ;
ana聽A. Gupta
;
Gianina Ravenscroft
;
Ranad
Shaheen
;
Emily聽J. Todd
;
Lindsay聽C. Swanson
;
Masaaki Shiina
;
Kazuhiro Ogata
;
Cynthia Hsu
;
Nigel聽F. Clarke
;
Basil聽T. Darras
;
Michelle聽A. Farrar
;
Amal Hashem
;
Nicholas聽D. Manton
;
Francesco Muntoni
;
Kathryn聽N. North
;
Sarah聽A. S
;
aradura
;
Ichizo Nishino
;
Yukiko聽K. Hayashi
;
Caroline聽A. Sewry
;
Elizabeth聽M. Thompson
;
et al.
刊名:The American Journal of Human Genetics
出版年:5 December, 2013
6.
Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome
作者:
Hanan?E. Shamseldin
;
Anna Rajab
;
Amal Alhashem
;
Ranad
Shaheen
;
Tarfa Al-Shidi
;
Rana Alamro
;
Salma Al Harassi
;
Fowzan?S. Alkuraya
刊名:The American Journal of Human Genetics
出版年:2013
7.
3M Syndrome: An Easily Recognizable yet Underdiagnosed Cause of Proportionate Short Stature
作者:
Mohammed S. Al-Dosari
;
PhD
1
;
2
;
&lowast
;
;
Muneera Al-Shammari
;
MD
1
;
3
;
&lowast
;
;
Ranad
Shaheen
;
PhD
1
;
&lowast
;
;
Eissa Faqeih
;
MD
4
;
Mohammed A. AlGhofely
;
MD
4
;
Ahmad Boukai
;
MD
5
;
Fowzan S. Alkuraya
;
MD
1
;
3
;
6
;
falkuraya@kfshrc.edu.sa
关键词:
cDNA
;
Complementary DNA
;
IGF
;
Insulin-like growth factor
;
PCR
;
Polymerase chain reaction
;
PD
;
Primordial dwarfism
刊名:The Journal of Pediatrics
出版年:2012
8.
POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism
作者:
Ranad
Shaheen
;
Eissa Faqeih
;
Hanan?E. Shamseldin
;
Ramil?R. Noche
;
Asma Sunker
;
Muneera?J. Alshammari
;
Tarfa Al-Sheddi
;
Nouran Adly
;
Mohammed?S. Al-Dosari
;
Sean?G. Megason
;
Muneera Al-Husain
;
Futwan Al-Mohanna
;
Fowzan?S. Alkuraya
刊名:The American Journal of Human Genetics
出版年:2012
9.
Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome
作者:
Ranad
Shaheen
1
;
Eissa Faqeih
2
;
Asma Sunker
1
;
Heba Morsy
3
;
Tarfa Al-Sheddi
1
;
Hanan
;
E. Shamseldin
1
;
Nouran Adly
1
;
Mais Hashem
1
;
Fowzan
;
S. Alkuraya.
1
;
4
;
5
;
falkuraya@kfshrc.edu.sa"" rel=""nofollow
刊名:The American Journal of Human Genetics
出版年:2011
10.
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly
作者:
Fowzan
;
S. Alkuraya
1
;
8
;
9
;
11
;
Xuyu Cai
2
;
3
;
11
;
Carina Emery
4
;
Ganeshwaran
;
H. Mochida
2
;
5
;
6
;
Mohammed
;
S. Al-Dosari
1
;
10
;
Jillian
;
M. Felie
2
;
R.
;
Sean Hill
2
;
Brenda
;
J. Barry
2
;
Jennifer
;
N. Partlow
2
;
Generoso
;
G. Gascon
7
;
Amal Kentab
9
;
Mohammad Jan
7
;
Ranad
Shaheen
1
;
Yuanyi Feng
4
;
yuanyi-feng@northwestern.edu"" rel=""nofollow
;
Christopher
;
A. Walsh
2
;
3
;
5
;
christopher.walsh@childrens.harvard.edu"" rel=""nofollow
刊名:The American Journal of Human Genetics
出版年:2011
1
2
3
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