Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
about
Genetics of keratoconus: where do we stand?Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossCannabidiol, a Major Non-Psychotropic Cannabis Constituent Enhances Fracture Healing and Stimulates Lysyl Hydroxylase Activity in Osteoblasts.Sc65-Null Mice Provide Evidence for a Novel Endoplasmic Reticulum Complex Regulating Collagen Lysyl Hydroxylation.Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.Brittle cornea syndrome: recognition, molecular diagnosis and managementDifferential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.The Ehlers-Danlos syndromes, rare types.Aetiology and management of hereditary aortopathy.Skin Biophysical Characteristics in Patients with Keratoconus: A Controlled Study.Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.Roles of PLODs in Collagen Synthesis and Cancer Progression.Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3
P2860
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P2860
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Phenotypic variability of the ...... ar and biochemical delineation
@ast
Phenotypic variability of the ...... ar and biochemical delineation
@en
type
label
Phenotypic variability of the ...... ar and biochemical delineation
@ast
Phenotypic variability of the ...... ar and biochemical delineation
@en
prefLabel
Phenotypic variability of the ...... ar and biochemical delineation
@ast
Phenotypic variability of the ...... ar and biochemical delineation
@en
P2093
P2860
P50
P356
P1476
Phenotypic variability of the ...... ar and biochemical delineation
@en
P2093
Anthony Vandersteen
Carlo Marcelis
Esra Ataman
Gul Serdaroglu
Kristi Jones
Marius Kraenzlin
Maya Chopra
Sixto Garcia
P2860
P2888
P356
10.1186/1750-1172-6-46
P577
2011-06-23T00:00:00Z
P5875
P6179
1027097485