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Marshall syndrome
Whole Exome Sequencing Gene Package Vision Disorders, Version 6.1, 31-1-2020
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Genetic Disorder
Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders
Novel and Recurrent COL11A1 and COL2A1 Mutations in the Marshall–Stickler Syndrome Spectrum
COL11A1 Gene Collagen Type XI Alpha 1 Chain
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss Due to COL11A1 Gene Mutation
Essential Genetics 5
Discover Dysplasias Gene Panel
Stickler Syndrome
Skeletal Dysplasias Precision Panel Overview Indications
Ocular Manifestations of Inherited Diseases Maya Eibschitz-Tsimhoni
Stickler Syndrome: a Review of Clinical Manifestations and the Genetics Evaluation
Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia Or Retinal Detachment
Connective Tissue Disorder NGS Panel
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia, a Type II
Blueprint Genetics Skeletal Dysplasias Core Panel
Stickler Syndrome: Further Mutations in COL11A1 and Evidence for Additional Locus Heterogeneity
Top View
Ehlers-Danlos Syndrome Precision Panel Overview Indications
Marshall/Stickler Syndrome
Hearing and Vision Loss Next- Generation Sequencing Panel
Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel
Col11a1a Expression Is Required for Zebrafish Development
Marshall Syndrome Cataract
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Splice-Altering Variant in COL11A1 As a Cause of Nonsyndromic Hearing Loss DFNA37
Review Article Clinical and Molecular Genetics of Stickler Syndrome
Stickler Or Marshall Syndrome (Col2a1/Col11a1) Sequencing
Major Review
Hereditary Vitreopathy
Syndromic and Nonsyndromic Deafness Precision Panel Overview
Genetic Diseases of Connective Tissues: Cellular and Extracellular Effects of ECM Mutations
Stickler Syndrome Panel, Sequencing
Blueprint Genetics Spondylometaphyseal
Blueprint Genetics Marfan Syndrome Panel
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Leistungsverzeichnis Der Sektion Pädiatrische Genetik Der Universitätskinderklinik Freiburg, Mathildenstr
Prevalence and Incidence of Rare Diseases
The Skeletal Dysplasias Deborah Krakow, MD1, and David L
The Triple Helix of Collagens – an Ancient Protein Structure That Enabled Animal Multicellularity and Tissue Evolution Aaron L
Glaucoma and Genomic Medicine
Collagen XI Sequence Variations in Nonsyndromic Cleft Palate, Robin Sequence and Micrognathia
Molecular Genetics of Stickler and Marshall Syndromes, and the Role of Collagen Ii and Other Candidate Proteins in High Myopia and Impaired Hearing
Comprehensive Molecular-Genetic Analysis of Mid-Frequency Sensorineural Hearing Loss
Clinical Features of the Congenital Vitreoretinopathies
Additional File 1
Blueprint Genetics Ehlers-Danlos Syndrome Panel
Blueprint Genetics Stickler Syndrome Panel
Syndrome of the Month Stickler's Syndrome
Recessive Gene List V2.0
103 Stickler Syndrome
Disease ID Disorder Name Gene Symbols OMIM ID