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内部出版物
Wiley电子期刊(3)
SpringerLink电子期刊(8)
Elsevier电子期刊(17)
在“
Elsevier电子期刊
”中,
命中:
17
条,耗时:小于0.01 秒
在所有数据库中总计命中:
28
条
1.
Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
作者:
Cé
;
line Huber
1
;
Eissa Ali Faqeih
2
;
Deborah Bartholdi
3
;
Christine Bole-Feysot
4
;
Zvi Borochowitz
5
;
Denise P. Cavalcanti
6
;
Amandine Frigo
1
;
Patrick Nitschke
7
;
Joelle Roume
8
;
Heloí
;
sa G. Santos
9
;
Stavit
A.
Shalev
10
;
Andrea Superti-Furga
11
;
Anne-Lise Delezoide
12
;
Martine Le Merrer
1
;
Arnold Munnich
1
;
Valé
;
rie Cormier-Daire
1
;
valerie.cormier-daire@inserm.fr
刊名:The American Journal of Human Genetics
出版年:2013
2.
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation
作者:
Ofer Sarig
;
Sagi Nahum
;
Debora Rapaport
;
Akemi Ishida-Yamamoto
;
Dana Fuchs-Telem
;
Li Qiaoli
;
Ksenya Cohen-Katsenelson
;
Ronen Spiegel
;
Janna Nousbeck
;
Shirli Israeli
;
Zvi-Uri Borochowitz
;
Gilly Padalon-Brauch
;
Jouni Uitto
;
Mia Horowitz
;
Stavit
Shalev
;
Eli Sprecher
刊名:The American Journal of Human Genetics
出版年:2012
3.
Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2
作者:
Ronen Spiegel
1
;
2
;
Ophry Pines
3
;
ophryp@ekmd.huji.ac.il
;
Asaf Ta-Shma
4
;
Efrat Burak
3
;
Avraham Shaag
4
;
Jonatan Halvardson
5
;
Shimon Edvardson
4
;
Muhammad Mahajna
6
;
Shamir Zenvirt
4
;
Ann Saada
4
;
Stavit
Shalev
1
;
2
;
Lars Feuk
5
;
Orly Elpeleg
4
;
elpeleg@hadassah.org.il
刊名:The American Journal of Human Genetics
出版年:2012
4.
NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
作者:
Christian Thiel
1
;
christian.thiel@uk-erlangen.de
;
Kristin Kessler
1
;
Andreas Giessl
2
;
Arno Dimmler
3
;
Stavit
A.
Shalev
4
;
5
;
Sigrun von der Haar
6
;
Martin Zenker
7
;
Diana Zahnleiter
1
;
Hartmut Stö
;
ss
8
;
Ernst Beinder
9
;
Rami Abou Jamra
1
;
Arif B. Ekici
1
;
Nadja Schrö
;
der-Kreß
;
2
;
Thomas Aigner
10
;
Thomas Kirchner
11
;
André
;
Reis
1
;
Johann H. Brandstä
;
tter
2
;
Anita Rauch
12
刊名:The American Journal of Human Genetics
出版年:2011
5.
Expanding the clinical spectrum of SLC29A3 gene defects
作者:
Ronen Spiegel
;
Simon T. Cliffe
;
Michael F. Buckley
;
Yanick J. Crow
;
Jill Urquhart
;
Yoseph Horovitz
;
Yardena Tenenbaum-Rakover
;
William G. Newman
;
Dian Donnai
;
Stavit
A.
Shalev
关键词:
SLC29A3
gene
;
Diabetes mellitus
;
Autosomal recessive
;
Hyperpigmentation
;
Hypertrichosis
刊名:European Journal of Medical Genetics
出版年:2010
6.
Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase
作者:
Liron Dvir
;
Gassoub Srour
;
Rasmi Abu-Ras
;
Benjamin Miller
;
Stavit
A.
Shalev
;
Tamar Ben-Yosef
刊名:The American Journal of Human Genetics
出版年:2010
7.
Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa
作者:
Rob W.J. Collin
;
Christine Safieh
;
Karin W. Littink
;
Stavit
A.
Shalev
;
Hanna J. Garzozi
;
Leah Rizel
;
Anan H. Abbasi
;
Frans P.M. Cremers
;
Anneke I. den Holl
;
er
;
B. Jeroen Klevering
;
Tamar Ben-Yosef
刊名:The American Journal of Human Genetics
出版年:2010
8.
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration—A late onset variant of PCH-1?
作者:
Dorit Lev
;
Marina Michelson-Kerman
;
Chana Vinkler
;
Lubov Blumkin
;
Stavit
A.
Shalev
;
Tally Lerman-Sagie
关键词:
Pontocerebellar hypoplasia
;
Cerebellar atrophy
;
Mental retardation
;
Anterior horn cell degeneration
;
Spinal muscular atrophy
刊名:European Journal of Paediatric Neurology
出版年:2008
9.
Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis
作者:
Janna Nousbeck
;
Ronen Spiegel
;
Akemi Ishida-Yamamoto
;
Margarita Indelman
;
Ayelet Shani-Adir
;
Noam Adir
;
Ehud Lipkin
;
Sivan Bercovici
;
Dan Geiger
;
Maurice A. van Steensel
;
Peter M. Steijlen
;
Reuven Bergman
;
Albrecht Bindereif
;
Mordechai Choder
;
Stavit
Shalev
;
Eli Sprecher
刊名:The American Journal of Human Genetics
出版年:2008
10.
Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9
作者:
Ortal Barel
;
Stavit
A.
Shalev
;
Rivka Ofir
;
Asi Cohen
;
Joel Zlotogora
;
Zamir Shorer
;
Galia Mazor
;
Gal Finer
;
Shareef Khateeb
;
Noam Zilberberg
;
Ohad S. Birk
刊名:The American Journal of Human Genetics
出版年:2008
1
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