Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
about
A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect.Application of immunotherapy for neurological manifestations in hypermobile Ehlers-Danlos syndrome
P2860
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Targeted next-generation seque ...... hip in Ehlers-Danlos syndrome.
@en
type
label
Targeted next-generation seque ...... hip in Ehlers-Danlos syndrome.
@en
prefLabel
Targeted next-generation seque ...... hip in Ehlers-Danlos syndrome.
@en
P2093
P2860
P50
P356
P1433
P1476
Targeted next-generation seque ...... ship in Ehlers-Danlos syndrome
@en
P2093
Abdulshakur Abdullah
Anthony Vandersteen
Christina Kanonidou
David Ferguson
F Michael Pope
Hanadi Kazkaz
Holly A Black
Jennifer Biggs
Michael Mueller
Neeti Ghali
P2860
P2888
P304
P356
10.1038/GIM.2016.14
P407
P577
2016-03-24T00:00:00Z