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CNKI学位论文(247)
CNKI期刊论文0611(1)
知网期刊论文(197)
在“
SpringerLink电子期刊
”中,
命中:
137
条,耗时:小于0.01 秒
在所有数据库中总计命中:
445
条
1.
Congenital cholesteatoma together with ossicular chain anomaly
作者:
Leyla Kansu
;
Levent N. Ozluoglu
关键词:
Conductive hearing loss
;
Congenital cholesteatoma
;
Ossicular chain
anomalies
;
Stapes agenesis
刊名:European Archives of Oto-Rhino-Laryngology
出版年:2017
2.
Classification of congenital nasal deformities: a proposal to amend the existing classification
作者:
Marta Fijałkowska
;
Bogusław Antoszewski
关键词:
Nose anomaly
;
Classification
;
Cleft
刊名:European Archives of Oto-Rhino-Laryngology
出版年:2017
3.
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
作者:
Wen’an Xu
;
Qiuyue Chen
;
Cuixian Liu
;
Jiajing Chen
;
Fu Xiong…
关键词:
Craniofacial
anomalies
;
Oral systemic disease(s)
;
RUNX2
;
Molecular genetics
;
Haploinsufficiency
;
Truncation protein
刊名:BMC Medical Genetics
出版年:2017
4.
The effects of surgery type and different ossiculoplasty materials on the hearing results in cholesteatoma surgery
作者:
Sultan Şevik Eliçora
;
Duygu Erdem…
关键词:
Ossiculoplasty
;
Intact canal wall mastoidectomy
;
Canal wall down mastoidectomy
;
Hearing gain
刊名:European Archives of Oto-Rhino-Laryngology
出版年:2017
5.
Identification of new
TRIP12
variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
作者:
Nuria C. Bramswig
;
H.-J. Lüdecke
;
M. Pettersson
;
B. Albrecht…
刊名:Human Genetics
出版年:2017
6.
Psychological impact of visible differences in patients with congenital
craniofacial
anomalies
作者:
Varun Pratap Singh
;
Timothy P Moss
关键词:
Craniofacial
anomalies
;
Dental aesthetics
;
Facial aesthetics
;
Orthodontic
;
Psychosocial
;
Derriford
刊名:Progress in Orthodontics
出版年:2015
7.
Nose clefts: own experience of treatment with different types of congenital nasal
anomalies
作者:
Marta Fijałkowska
;
Bogusław Antoszewski
关键词:
Nose cleft
;
Classification
;
Treatment
;
Ala nasi cleft
刊名:European Journal of Plastic Surgery
出版年:2016
8.
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability
作者:
Jonathan D. J. Labonne
;
Yiping Shen
;
Il-Keun Kong…
关键词:
1p microdeletion
;
Intellectual disability
;
Delayed psychomotor development
;
Craniofacial
anomalies
;
DAB1
;
HOOK1
;
NFIA
;
DOCK7
;
DNAJC6
;
PDE4B
刊名:Molecular Cytogenetics
出版年:2016
9.
RASopathien
作者:
Prof. Dr. Martin Zenker
;
Kerstin Kutsche
关键词:
Noonan syndrome
;
Cardiofaciocutaneous syndrome
;
Costello syndrome
;
Neurofibromatosis type 1
;
RAS
;
MAPK pathway
刊名:medizinische genetik
出版年:2016
10.
Phenotypic subregions within the split-hand/foot malformation 1 locus
作者:
Malene B. Rasmussen
;
Sven Kreiborg
;
Per Jensen
;
Mads Bak
;
Yuan Mang…
刊名:Human Genetics
出版年:2016
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