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内部出版物
Wiley电子期刊(2)
Elsevier电子期刊(1)
在“
Wiley电子期刊
”中,
命中:
2
条,耗时:小于0.01 秒
在所有数据库中总计命中:
3
条
1.
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing
作者:
Luisa Mackenroth
;
Bjö
;
rn
Fischer
-
Zirnsak
;
Johannes Egerer
;
Jochen Hecht
;
Tilmann Kallinich
;
Werner Stenzel
;
Birgit Spors
;
Arpad von Moers
;
Stefan Mundlos
;
Uwe Kornak
;
Kerstin Gerhold and Denise Horn
关键词:
osteogenesis imperfecta
;
Ehlers&ndash
;
Danlos syndrome
;
COL1A1
;
TNXB
;
whole exome sequencing
刊名:American Journal of Medical Genetics Part A
出版年:2016
2.
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood
作者:
Denise Horn
;
Bernhard Weschke
;
Ellen Knierim
;
Bjö
;
rn
Fischer
-
Zirnsak
;
Werner Stenzel
;
Markus Schuelke and Tomasz Zemojtel
刊名:American Journal of Medical Genetics Part A
出版年:2016
1
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作者(2)
按出版年细分(2)
2016年(2)
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