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内部出版物
CNKI学位论文(49)
知网期刊论文(69)
在“
SpringerLink电子期刊
”中,
命中:
12
条,耗时:0.0429804 秒
在所有数据库中总计命中:
118
条
1.
Mutation analyses in 17 patients
w
ith deficiency in acid ?-galactosidase: three novel point mutations and high correlation of mutation W273L
w
ith Morquio disease type B
作者:
Eduard Paschke
;
Ivica Milos
;
Heidemarie Kreimer-Erlacher
;
Gerald Hoefler
;
Michael Beck
;
Maria Hoeltzenbein
;
W
im
Kleijer
;
Thierry Levade
;
Helen Michelakakis and B. Radeva
刊名:Human Genetics
出版年:2001
2.
Mutation analyses in 17 patients
w
ith deficiency in acid ?-galactosidase: three novel point mutations and high correlation of mutation W273L
w
ith Morquio disease type B
作者:
Eduard Paschke
;
Ivica Milos
;
Heidemarie Kreimer-Erlacher
;
Gerald Hoefler
;
Michael Beck
;
Maria Hoeltzenbein
;
W
im
Kleijer
;
Thierry Levade
;
Helen Michelakakis and B. Radeva
刊名:Human Genetics
出版年:2001
3.
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients
w
ith classical and mild citrullinemia
作者:
J. H?berle
;
S. Pauli
;
M. Linnebank
;
W
.
Kleijer
;
H. Bakker
;
R.
W
anders
;
E. Harms and H. Koch
刊名:Human Genetics
出版年:2002
4.
Cranial MRI in the Nijmegen breakage syndrome
作者:
M. Bekiesińska-Figato
w
ska
;
K. H. Chrzano
w
ska
;
J. Sikorska
;
J.
W
alecki
;
M. Kraje
w
ska-Walasek
;
S. Jó?
w
iak and W. J.
Kleijer
关键词:
Key
w
ords Nijmegen breakage syndrome
;
Anomalies of brain
;
Magnetic resonance imaging
刊名:Neuroradiology
出版年:2000
5.
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families
作者:
W
. J.
Kleijer
;
V. H. Garritsen
;
M. Linnebank
;
P. Mooyer
;
J. G. M. Huijmans
;
A. Mustonen
;
K. O. J. Simola
;
M. Arslan-Kirchner
;
R. Battini and P. Briones
;
et al.
刊名:Journal of Inherited Metabolic Disease
出版年:2002
6.
Cranial MRI in the Nijmegen breakage syndrome
作者:
M. Bekiesi¨½ska-Figato
w
ska
;
K. H. Chrzano
w
ska
;
J. Sikorska
;
J.
W
alecki
;
M. Kraje
w
ska-Walasek
;
S. J¨®?
w
iak and W. J.
Kleijer
关键词:
Key
w
ords Nijmegen breakage syndrome
;
Anomalies of brain
;
Magnetic resonance imaging
刊名:Neuroradiology
出版年:2000
7.
Pyruvate dehydrogenase complex deficiency and absence of subunit X
作者:
L. De Meirleir
;
W
. Lissens
;
C. Benelli
;
C. Marsac
;
J. De Klerk
;
J. Scholte
;
O. Van Diggelen
;
W
.
Kleijer
;
S. Seneca and I. Liebaers
刊名:Journal of Inherited Metabolic Disease
出版年:1998
8.
Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands
作者:
B.
W
eber
;
J.J.P. van de Kamp
;
W
.J.
Kleijer
;
X.-H. Guo
;
L. Blanch
;
O.P. van Diggelen
;
R.
W
evers
;
B.J.H.M. Poorthuis and J.J. Hop
w
ood
刊名:Journal of Inherited Metabolic Disease
出版年:1998
9.
Pyruvate dehydrogenase complex deficiency and absence of subunit X
作者:
L. De Meirleir
;
W
. Lissens
;
C. Benelli
;
C. Marsac
;
J. De Klerk
;
J. Scholte
;
O. Van Diggelen
;
W
.
Kleijer
;
S. Seneca and I. Liebaers
刊名:Journal of Inherited Metabolic Disease
出版年:1998
10.
Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands
作者:
B.
W
eber
;
J.J.P. van de Kamp
;
W
.J.
Kleijer
;
X.-H. Guo
;
L. Blanch
;
O.P. van Diggelen
;
R.
W
evers
;
B.J.H.M. Poorthuis and J.J. Hop
w
ood
刊名:Journal of Inherited Metabolic Disease
出版年:1998
1
2
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作者(10)
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2002年(2)
2001年(2)
2000年(2)
2000年及以前(6)
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