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内部出版物
Wiley电子期刊(2)
SpringerLink电子期刊(78)
NATURE电子期刊(3)
Elsevier电子期刊(185)
在“
SpringerLink电子期刊
”中,
命中:
78
条,耗时:0.0349831 秒
在所有数据库中总计命中:
268
条
1.
Le syndrome de Currarino : forme syndromique de malformation anorectale. Aspects cliniques, génétiques et thérapeutiques
作者:
C. Crétolle
关键词:
Sacrum en cimeterre
;
Sténose anorectale
;
Tératome pré
;
sacré
;
Moelle attachée basse
;
Abcès pré
;
sacré
;
Gène MN
X
1
;
Scimitar sacrum
;
Anorectal stenosis
;
Presacral teratoma
;
Tethered cord
;
Presacral abcess
;
MN
X
1 gene
刊名:C?lon & Rectum
出版年:2015
2.
Idiopathic scaphoid avascular necrosis in a patient with hypohidrotic congenital ectodermal dysplasia
作者:
Tekin Simsek
;
Engin Yosma
;
Ahmet Demir
关键词:
Hypohidrotic ectodermal dysplasia
;
Christ–Siemens–Touraine syndrome
;
Idiopathic scaphoid avascular necrosis
;
Preiser’s disease
刊名:European Journal of Plastic Surgery
出版年:2015
3.
Inheritance
and genetic mapping of a gene for seedling resistance to powdery mildew in wheat line
X
3986-2
作者:
Pengtao Ma
;
Hong
x
ing Xu
;
Qiaoling Luo
;
Yanmin Qie
;
Yilin Zhou
;
Yunfeng
X
u…
关键词:
Powdery mildew
;
Seedling resistance
;
Blumeria graminis f. sp. tritici
;
Molecular mapping
;
Triticum aestivum L.
刊名:Euphytica
出版年:2014
4.
Olmsted syndrome: clinical, molecular and therapeutic aspects
作者:
Sabine Duchatelet
;
Alain Hovnanian
关键词:
Olmsted syndrome
;
Palmoplantar keratoderma
;
Periorificial keratotic plaques
;
Clinical heterogeneity
;
TRPV3
;
MBTPS2
刊名:Orphanet Journal of Rare Diseases
出版年:2015
5.
Split-hand/foot malformation - molecular cause and implications in genetic counseling
作者:
Anna Sowińska-Seidler (1)
Magdalena Socha (1)
Aleksander Jamsheer (1) (2)
关键词:
DL
X
5
;
SHFM
;
SHFLD
;
Split
;
hand/foot malformation
;
TP63
;
WNT10B
刊名:Journal of Applied Genetics
出版年:2014
6.
The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review
作者:
Robert P. Erickson (1)
N. Avrion Mitchison (2)
关键词:
Mutation
;
Inheritance
;
Genome
;
wide associations studies
;
ENU mutagenesis
;
Human population dynamics
刊名:Journal of Applied Genetics
出版年:2014
7.
Intermediate Charcot-Marie-Tooth disease
作者:
Lei Liu (1)
Ru
x
u Zhang (1)
关键词:
Charcot
;
Marie
;
Tooth disease
;
intermediate CMT
;
dominant
type CMT
;
recessive type CMT
;
diagnostic procedure
刊名:Neuroscience Bulletin
出版年:2014
8.
The load and diversity of hereditary diseases in four raions of Rostov oblast
作者:
S. S. Amelina (1)
N. V. Vetrova (1)
M. A. Amelina (1)
E. V. Degtereva (1)
T. I. Ponomareva (1)
G. I. Elchinova (2)
L. K. Michailova (3)
R. A. Zinchenko (2)
刊名:Russian Journal of Genetics
出版年:2014
9.
Genetic analysis and molecular mapping of a new fertility restorer gene Rf8 for Triticum timopheevi cytoplasm in wheat (Triticum aestivum L.) using SSR markers
作者:
Pallavi Sinha (1) (2) (3)
S. M. S. Tomar (1)
Vinod (1)
Vikas K. Singh (1)
H. S. Balyan (2)
关键词:
Hybrid wheat
;
Fertility restorer gene
;
Bulked segregant analysis (BSA)
;
Molecular mapping
刊名:Genetica
出版年:2013
10.
Familial neuralgia of occipital and intermedius nerves in a Chinese family
作者:
Yu Wang (1) yw4d@hotmail.com
Chuan-Yong Yu (1)
Lin Huang (1)
Franz Riederer (2)
Dominik Ettlin (2) Dominik.Ettlin@zzm.uzh.ch
关键词:
Occipital neuralgia –
;
Nervus intermedius neuralgia –
;
Familial syndrome –
;
Inheritance
patterns –
;
Autosomal
dominant
inheritance
–
;
X
;
linked
dominant
inheritance
刊名:The Journal of Headache and Pain
出版年:2011
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