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馆藏书目(1)
CNKI学位论文(88)
知网期刊论文(17)
在“
Elsevier电子期刊
”中,
命中:
24
条,耗时:小于0.01 秒
在所有数据库中总计命中:
106
条
1.
Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability
作者:
Lars Hansen
1
;
2
;
9
;
lah@sund.ku.dk
;
Hasan Tawamie
3
;
13
;
Yoshiko Murakami
4
;
13
;
Yuan Mang
1
;
2
;
13
;
Shoaib ur Rehman
1
;
5
;
13
;
Rebecca Buchert
3
;
Stefanie Schaffer
11
;
Safia Muhammad
12
;
Mads Bak
1
;
2
;
Markus M. Nö
;
then
6
;
7
;
8
;
Eric P. Bennett
9
;
10
;
Yusuke Maeda
4
;
Michael Aigner
11
;
André
;
Reis
3
;
Taroh Kinoshita
4
;
Niels
Tommerup
1
;
2
;
Shahid Mahmood Baig
5
;
Rami Abou Jamra
3
;
rami.aboujamra@uk-erlangen.de
刊名:The American Journal of Human Genetics
出版年:2013
2.
Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans
作者:
Bernard Thienpont
;
Litu Zhang
;
Alex V. Postma
;
Jeroen Breckpot
;
Lé
;
on-Charles Tranchevent
;
Peter Van Loo
;
Kjeld Mø
;
llgå
;
rd
;
Niels
Tommerup
;
Iben Bache
;
Zeynep Tü
;
mer
;
Klaartje van Enge
刊名:The American Journal of Human Genetics
出版年:2010
3.
A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation
作者:
Daniela Kleine-Kohlbrecher
;
Jesper Christensen
;
Julien V
;
amme
;
Iratxe Abarrategui
;
Mads Bak
;
Niels
Tommerup
;
Xiaobing Shi
;
Or Gozani
;
Juri Rappsilber
;
Anna Elisabetta Salcini
;
Kristian Helin
刊名:Molecular Cell
出版年:2010
4.
Call for nomination of members of The International Standing Committee of Human Cytogenetic Nomenclature 2006–2011
作者:
Niels
Tommerup
关键词:
CN
刊名:European Journal of Medical Genetics
出版年:2006
5.
Lisa G. Shaffer,
Niels
Tommerup
: ISCN 2005, An International System for Human Cytogenetic Nomenclature 2005, S. Karger AG, Basel (2005) ISBN 3-8055-8019-3 (VI+130pp., 11 fig., 4tab., soft cover. CHF 4
作者:
E. Schwinger
关键词:
Primates
;
Harderian glands
;
Tarsal glands
;
Neonates
刊名:Annals of Anatomy - Anatomischer Anzeiger
出版年:2006
6.
Truncation of the Down Syndrome Candidate Gene DYRK1A
作者:
Rikke S. Mø
;
ller
;
Sabine Kü
;
bart
;
Maria Hoeltzenbein
;
Babett Heye
;
Ida Vogel
;
Christian P. Hansen
;
Corinna Menzel
;
Reinhard Ullmann
;
Niels
Tommerup
;
Hans-Hilger Ropers
;
Zeynep Tü
;
mer
;
Vera M. Kalscheuer
刊名:The American Journal of Human Genetics
出版年:2008
7.
Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy
作者:
Heather C. Mefford
;
Sé
;
verine Clauin
;
Andrew J. Sharp
;
Rikke S. Moller
;
Reinhard Ullmann
;
Raj Kapur
;
Dan Pinkel
;
Gregory M. Cooper
;
Mario Ventura
;
H. Hilger Ropers
;
Niels
Tommerup
;
Evan E. Eichler
;
Christine Bellanne-Chantelot
刊名:The American Journal of Human Genetics
出版年:2007
8.
A novel primate specific gene, CEI, is located in the homeobox gene IRXA2 promoter in Homo sapiens
作者:
Qingfa Wu
;
Niels
Tommerup
;
San Ming Wang and Lars Hansen
关键词:
Transcription factor
;
Gene expression profiling
;
Iroquois protein
;
Alternative transcript
;
Bi-directional promoter
;
Evolution
刊名:Gene
出版年:2006
9.
Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA
作者:
Mads Bak
;
Lene Conley
;
Jakob Hedegaard
;
Lars Allan Larsen
;
Peter Sø
;
rensen
;
Christian Bendixen and
Niels
Tommerup
关键词:
Microarray
;
RNA amplification
;
cRNA target
刊名:Analytical Biochemistry
出版年:2006
10.
Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans
作者:
Mette Gilling
;
Jö
;
rn S. Dullinger
;
Stefan Gesk
;
Simone Metzke-Heidemann
;
Reiner Siebert
;
Thomas Meyer
;
Karen Brondum-
Niels
en
;
Niels
Tommerup
;
Hans-Hilger Ropers
;
Zeynep Tü
;
mer
;
Vera M. Kalscheuer
;
N. Simon Thomas
刊名:The American Journal of Human Genetics
出版年:2006
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