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内部出版物
SpringerLink电子期刊(6)
Elsevier电子期刊(8)
在“
Elsevier电子期刊
”中,
命中:
8
条,耗时:小于0.01 秒
在所有数据库中总计命中:
14
条
1.
rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients
作者:
Daniela Roedl
a
;
Vinzenz Oji
b
;
Jeroen T.M. Buters
a
;
Heidrun Behrendt
a
;
Markus Braun-Falco
c
;
markus.braun-falco@med.uni-muenchen.de
关键词:
Genodermatosis
;
Cutaneous gene therapy
;
Serine protease
;
Cornified envelope
;
Adeno-associated virus
刊名:Journal of Dermatological Science
出版年:2011
2.
A clinical and magnetic resonance spectroscopy study of a brain tumor in a patient with segmental neurofibromatosis
作者:
S. Chebel
a
;
saber_tn2002@yahoo.fr
;
S. Ben Yahia
b
;
A. Boughammoura-Bouatay
a
;
R. Salem
c
;
M. Golli
c
;
M. Khairallah
b
;
M. Frih-Ayed
a
关键词:
Neurofibromatosis 1
;
Segmental neurofibromatosis
;
Brain tumor
;
Magnetic resonance imaging
;
Spectroscopy
刊名:Neurochirurgie
出版年:2010
3.
High 8-dehydrocholesterol level in a typical case of Conradi–Hunermann–Happle syndrome with a novel H76Y missense mutation
作者:
Ayano Umekoji
;
Kazuyoshi Fukai
;
Takeshi Kasama
;
Toshiaki Yokoi
;
Mika Saito
;
Akitoshi Tsuruhara
;
Masamitsu Ishii
关键词:
Ichthyosis
;
Congenital
genodermatosis
;
Cholesterol
刊名:Journal of Dermatological Science
出版年:2008
4.
Intérêt de la recherche de Lekti dans le diagnostic d’une érythrodermie chez le nourrisson
作者:
N. El Fé
;
kih
;
M. Kharfi
;
M. Khmiri
;
N. Mattoussi
;
S. Fraitag
;
C. Bodemer
;
M. Ridha Kamoun
刊名:Journal de Pediatrie et de Puericulture
出版年:2008
5.
An unusual mutation in RECQ4 gene leading to Rothmund–Thomson syndrome
作者:
Balraj
;
Pauline
;
Concannon
;
Pat
;
Jamal
;
Rahman
;
Beghini
;
Alessandro
;
Hoe
;
T.S.
;
Khoo
;
Alan Soobeng
;
et. al.
关键词:
Rothmund&ndash
;
Thomson syndrome
;
RECQ4
;
Intronic mutation
;
Splicing
刊名:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
出版年:2002
6.
Assignment of a Novel Locus for Autosomal Recessive
Congenital
Ichthyosis to Chromosome 19p13.1-p13.2
作者:
Elina Virolainen
;
Maija Wessman
;
Iiris Hovatta
;
Kirsti-Maria Niemi
;
Jaakko Ignatius
;
Juha Kere
;
Leena Peltonen
;
Aarno Palotie
刊名:The American Journal of Human Genetics
出版年:2000
7.
Chronic keratoconjunctivitis associated with
congenital
dyskeratosis and erythrokeratodermia variablis: Two rare genodermatoses
作者:
Merchant
;
Amyna
;
Zhao
;
Tong-Zheng
;
Foster
;
C. Stephen
刊名:Ophthalmology
出版年:1998
8.
Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense
作者:
Leena Pulkkinen
;
Fatima Rouan
;
Leena Bruckner-Tuderman
;
Robert Wallerstein
;
Maria Garzon
;
Tod Brown
;
Lynne Smith
;
William Carter
;
Jouni Uitto
刊名:The American Journal of Human Genetics
出版年:1998
1
按检索点细分(8)
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文摘(6)
按出版年细分(8)
2011年(1)
2010年(1)
2008年(2)
2002年(1)
2000年(1)
2000年及以前(2)
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