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内部出版物
Wiley电子期刊(2)
SpringerLink电子期刊(14)
NATURE电子期刊(4)
Elsevier电子期刊(10)
在“
Elsevier电子期刊
”中,
命中:
10
条,耗时:0.0199977 秒
在所有数据库中总计命中:
30
条
1.
IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response
作者:
Frank Oeffner
;
Gayle Fischer
;
Rudolf Happle
;
Arne Kö
;
nig
;
Regina C. Betz
;
Dorothea Bornholdt
;
Ulrike Neidel
;
Marí
;
a del Carmen Boente
;
Silke Redler
;
Javier Romero-Gomez
;
Aï
;
cha Salhi
;
Á
;
ngel Vera-Casañ
o ;
Christian Weirich
;
Karl
-
Heinz
Grzeschik
刊名:The American Journal of Human Genetics
出版年:2009
2.
13-P048 Expression patterning in CNS and limb from fish to mammals by GLI3-intronic enhancers
作者:
Amir Ali Abbasi
;
Zissis Paparidis
;
Sajid Malik Malik
;
Christian Weirich
;
Karl
-
Heinz
Grzeschik
刊名:Mechanisms of Development
出版年:2009
3.
Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata
作者:
Yorck Hellenbroich
;
Karl
-
Heinz
Grzeschik
;
Martin Krapp
;
Tiantom Jarutat
;
Christa Lehrmann-Petersen
;
Karin Buiting
;
Gabriele Gillessen-Kaesbach
关键词:
CDPX2
;
EBP
;
Chondrodysplasia punctata
;
X-inactivation
;
Reduced penetrance
;
Intrafamilial phenotypic variability
刊名:European Journal of Medical Genetics
出版年:2007
4.
The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins
作者:
Gu
;
Wenli
;
Wevers
;
Andrea
;
Schrö
;
der
;
Hannsjö
;
rg
;
Grzeschik
;
Karl
-
Heinz
;
Derst
;
Christian
;
et. al.
关键词:
Epilepsy
;
Glioma
;
Chromosomal localization
;
Expression profile
;
Gene family
;
ADLTE
;
autosomal dominant lateral temporal lobe epilepsy
;
BLAT
;
basic local alignment tool
;
EST
;
expressed sequence tag
;
HUSAR
;
Heidelberg Unix Sequence Analysis Resources
;
LGI
刊名:FEBS Letters
出版年:2002
5.
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement
作者:
Arne Kö
;
nig
;
Rudolf Happle
;
Regina Fink-Puches
;
Hans Peter Soyer
;
Dorothea Bornholdt
;
Hartmut Engel
;
Karl
-
Heinz
Grzeschik
刊名:Journal of the American Academy of Dermatology
出版年:2002
6.
The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations
作者:
Uppala Radhakrishna
;
Dorothea Bornholdt
;
Hamish S. Scott
;
Uday C. Patel
;
Colette Rossier
;
Hartmut Engel
;
Arm
;
Bottani
;
Divya Ch
;
al
;
Jean-Louis Blouin
;
Jitendra V. Solanki
;
Karl
-
Heinz
Grzeschik
;
Stylianos E. Antonarakis
刊名:The American Journal of Human Genetics
出版年:1999
7.
Human Gap Junction Protein Connexin31: Molecular Cloning and Expression Analysis
作者:
Wenzel
;
Keirut
;
Manthey
;
Dieter
;
Willecke
;
Klaus
;
Grzeschik
;
Karl
-
Heinz
;
Traub
;
Otto
刊名:Biochemical and Biophysical Research Communications
出版年:1998
8.
Human Sp3 Transcriptional Regulator Gene (SP3) Maps to Chromosome 2q31
作者:
Kalff-Suske
;
Martha
;
Kunz
;
Jü
;
rgen
;
Grzeschik
;
Karl
-
Heinz
;
Suske
;
Guntram
刊名:Genomics
出版年:1996
9.
Regional Assignment of 30 Expressed Sequence Tags on Human Chromosome 7 Using a Somatic Cell Hybrid Panel
作者:
PATEL
;
RESHMA J.
;
KEEN
;
JEFFREY T.
;
GRZESCHIK
;
KARL
-
HEINZ
;
NIERMAN
;
WILLIAM C.
;
HAYES
;
PHILLIP
;
et. al.
刊名:Genomics
出版年:1995
10.
Human Sp4 transcription factor gene (SP4) maps to chromosome 7p15
作者:
Kalff-Suske
;
Martha
;
Kunz
;
Jü
;
rgen
;
Grzeschik
;
Karl
-
Heinz
;
Suske
;
Guntram
刊名:Genomics
出版年:1995
1
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