Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012
about
Neurological manifestations of Ehlers-Danlos syndrome(s): A reviewSystematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variantHeart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.Living with joint hypermobility syndrome: patient experiences of diagnosis, referral and self-careDiagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi surveyClinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsGastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.Unexpected association between joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type and obsessive-compulsive personality disorder.Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties.Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.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.Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees
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P2860
Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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name
Clinical utility gene card for ...... VII and variants - update 2012
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Clinical utility gene card for ...... VII and variants - update 2012
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Clinical utility gene card for ...... VII and variants - update 2012
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Clinical utility gene card for ...... VII and variants - update 2012
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Clinical utility gene card for ...... VII and variants - update 2012
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Clinical utility gene card for ...... VII and variants - update 2012
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P2860
P356
P1476
Clinical utility gene card for ...... VII and variants - update 2012
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P2093
Beat Steinmann
Karin Mayer
P2860
P2888
P356
10.1038/EJHG.2012.162
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2012-08-15T00:00:00Z