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CNKI学位论文(12)
知网期刊论文(12)
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:
24
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.
Ehlers-Danlos Syndrome Caused by Biallelic
TNXB
Variants in Patients with Congenital Adrenal Hyperplasia
作者:
Wuyan Chen
;
Ashley F. Perritt
;
Rachel Morissette
;
Jennifer L. Dreiling
;
Markus-Frederik Bohn
;
Ashwini Mallappa
;
Zhi Xu
;
Martha Quezado and Deborah P. Merke
刊名:Human Mutation
出版年:2016
1
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2016年(2)
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