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内部出版物
CNKI学位论文(27)
知网期刊论文(26)
在“
SpringerLink电子期刊
”中,
命中:
8
条,耗时:0.1179417 秒
在所有数据库中总计命中:
53
条
1.
Tetraso
m
ie 18p und Innenohrschwerh?rigkeit
作者:
C. Schwe
mm
le (1) schwe
mm
le.cornelia@
m
h-hannover.de
M.
Arslan
-
Kirchner
(2)
B. Pabst (1)
M. Ptok (1)
关键词:
Tetraso
m
y 18p – Isochro
m
oso
m
e 18p – Genetics – Sensorineural hearing loss – Brainste
m
evoked response audio
m
etry
刊名:HNO
出版年:2012
2.
Das
M
arfan-Syndro
m
und verwandte
m
onogene Krankheiten der Aorta
作者:
PD Dr. P.N. Robinson (1) (2) (3) (4)
M
.
Arslan
-
Kirchner
(5)
P. Gehle (4) (6)
J. Sch
m
idtke (5)
Prof. Dr. Y. von Kodolitsch (7)
关键词:
M
arfan
;
Syndro
m
;
Fibrillin
1 ;
Aortendissektion
;
Loeys
;
Dietz
;
Syndro
m
;
Aortenaneurys
m
a
;
M
arfan syndro
m
e
;
Fibrillin
1 ;
Aneurys
m
;
dissecting
;
Loeys
;
Dietz syndro
m
e
;
Aortic aneurys
m
刊名:
m
edizinische genetik
出版年:2011
3.
M
arfan syndro
m
e: clinical consequences resulting fro
m
a
m
edicolegal autopsy of a case of sudden death due to aortic rupture
作者:
M
. Klintschar
;
U. Bilkenroth
;
M
.
Arslan
-
Kirchner
;
J. Sch
m
idtke and D. Stiller
关键词:
M
arfan syndro
m
e
;
Aortic aneurys
m
;
Fibrillin
;
1 gene
;
Arachnodactyly
;
Early diagnosis
刊名:International Journal of Legal
M
edicine
出版年:2009
4.
Renal polya
m
ine excretion, tubular a
m
ino acid reabsorption and
m
olecular genetics in cystinuria
作者:
H. Langen
;
D. von Kietzell
;
D. Byrd
;
M
.
Arslan
-
Kirchner
;
U. Vester
;
M
. Stuhr
m
ann
;
T. D?rk
;
K. Saar
;
A. Reis and J. Sch
m
idtke
;
et al.
关键词:
Key words?Tubular a
m
ino acid reabsorption
;
Renal polya
m
ine excretion
;
SLC3A1
m
utation analysis
;
Genetic localization of non
;
type I cystinuria
刊名:Pediatric Nephrology
出版年:2000
5.
Chro
m
oso
m
e 18 replaced by two ring chro
m
oso
m
es of chro
m
oso
m
e 18 origin
作者:
K.
M
iller
;
B. Pabst
;
H. Ritter
;
P. Nürnberg
;
R. Siebert
;
J. Sch
m
idtke and M.
Arslan
-
Kirchner
刊名:Hu
m
an Genetics
出版年:2003
6.
Clinical, enzy
m
atic, and
m
olecular genetic characterization of a bioche
m
ical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated fa
m
ilies
作者:
W. J. Kleijer
;
V. H. Garritsen
;
M
. Linnebank
;
P.
M
ooyer
;
J. G.
M
. Huij
m
ans
;
A.
M
ustonen
;
K. O. J. Si
m
ola
;
M
.
Arslan
-
Kirchner
;
R. Battini and P. Briones
;
et al.
刊名:Journal of Inherited
M
etabolic Disease
出版年:2002
7.
Renal polya
m
ine excretion, tubular a
m
ino acid reabsorption and
m
olecular genetics in cystinuria
作者:
H. Langen
;
D. von Kietzell
;
D. Byrd
;
M
.
Arslan
-
Kirchner
;
U. Vester
;
M
. Stuhr
m
ann
;
T. D?rk
;
K. Saar
;
A. Reis and J. Sch
m
idtke
;
et al.
关键词:
Key words
;
Tubular a
m
ino acid reabsorption
;
Renal polya
m
ine excretion
;
SLC3A1
m
utation analysis
;
Genetic localization of non
;
type I cystinuria
刊名:Pediatric Nephrology
出版年:2000
8.
Chro
m
oso
m
e 18 replaced by two ring chro
m
oso
m
es of chro
m
oso
m
e 18 origin
作者:
K.
M
iller
;
B. Pabst
;
H. Ritter
;
P. N¨¹rnberg
;
R. Siebert
;
J. Sch
m
idtke and M.
Arslan
-
Kirchner
刊名:Hu
m
an Genetics
出版年:2003
1
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2002年(1)
2000年(2)
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