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Usher syndrome
Novel Association of Hypertrophic Cardiomyopathy, Sensorineural Deafness, and a Mutation in Unconventional Myosin VI (MYO6)
Clinical Genetics and the Hutterite Brethren
Splicing-Correcting Therapeutic Approaches for Retinal Dystrophies: Where Endogenous Gene Regulation and Specificity Matter
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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
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Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients
Inheritest 500 PLUS
Leber Congenital Amaurosis Caused by Lebercilin(LCA5) Mutation
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Frequency of Usher Syndrome in Two Pediatric Populations: Implications for Genetic Screening of Deaf and Hard of Hearing Children William J
270 Genes Genetic Insights Panel
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Usher Syndrome the Primary Content of This Article Was Retrieved From
Top View
Hereditary Hearing Loss and It's Syndromes
Profound, Prelingual Nonsyndromic Deafness Maps to Chromosome 10Q21 and Is Caused by a Novel Missense Mutation in the Usher Syndrome Type IF Gene PCDH15
Retinal Structure Measurements As Inclusion Criteria for Stem Cell–Based Therapies of Retinal Degenerations
Baylor Miraca Genetics Laboratories RE: Test Update Memorandum
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CAGI Sickkids Challenges: Assessment of Phenotype and Variant Predictions Derived from Clinical and Genomic Data of Children with Undiagnosed Diseases
The Genetics of Deafness in Domestic Animals
Blindness, Hearing Loss and Brown Crumbly Teeth: Determining the Molecular Basis of Heimler and Heimler Plus Syndromes and Other Related Conditions
Download the Presentation Slides Here
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
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Autoantibodies in Senear-Usher Syndrome: Cross-Reactivity Or Multiple Autoimmunity?
CDH23 Gene Cadherin Related 23
Mendelian Disorders Among Jews Tables
Prevalence of Rare Diseases: Bibliographic Data
Why a Definite Diagnosis Matters
Boards' Fodder
A Detailed Clinical and Molecular Survey of Subjects with Nonsyndromic USH2A Retinopathy Reveals an Allelic Hierarchy of Disease-Causing Variants
Gene-Based Therapy Strategies for Human Usher Syndrome
A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila
Carrier Screening Disease & Gene List
Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1
Usher Syndrome, Types IF and IIIA
The Usefulness of Whole-Exome Sequencing in Routine Clinical Practice
Assessment of Genetic Disorders: Congenital Sensorineural Hearing Loss
Medical Diagnoses Driven by UNHS Cheryl Edwards, Aud Marilyn Neault, Phd Laura Wheaton, Scd Congenital Cytomegalovirus (CMV) and Hearing Loss
Disease Boundaries in the Retina of Patients with Usher Syndrome Caused by MYO7A Gene Mutations
Comprehensive Panel
Newborndxtm Advanced Sequencing Evaluation Disorders List
Expanded Genetic Screening Panel for the Ashkenazi Jewish Population
Ashkenazi Jews
Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
Antisense Oligonucleotide-Mediated Exon-Skipping Therapies: Precision Medicine Spreading from Duchenne Muscular Dystrophy
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Usher Syndrome
A Homozygous MYO7A Mutation Associated to Usher Syndrome and Unilateral Auditory Neuropathy Spectrum Disorder
Cadherin) Mutations
Help Me Understand Genetics
Usher Syndrome
Risk Factors for Late Onset Hearing Loss: Features Associated with Syndromes
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy
Gene List (By Disease)
Usher Syndrome
Phs001516.V1.P1 OMIM ID
Common Founder Effects of Hereditary Hemochromatosis, Wilson´S Disease, the Long QT Syndrome and Autosomal Recessive Deafness C
Detailed Description Incl. Links to OMIM & Pubmed (Pdf)
Orphanet Report Series 180 160 Collection 140 Rare Diseases
Download CGT Plus V3.0.1
Knowledge Is Power. Plan Ahead with Geneaware. Gain the Knowledge Needed to Provide Your Patients Empowered Family Planning Decisions
Amended Clinical Trial Protocol 08 US1/001/10 - Study TDU13600
Usher Syndrome Panel
Usher Syndrome
A Deep Learning Approach to Identify Gene Targets of a Therapeutic for Human Splicing Disorders
2021 Pathology & Lab CPT Updates
Inheritest® Carrier Screen 500 PLUS Panel Understanding More Means Empowering More Your Patients Are Asking for Even More Insight As They Plan for the Future
Inherited Disease Screening
Ion Ampliseq™ Inherited Disease Panel Target Gene List
Cadherins As Targets for Genetic Diseases
Blueprint Genetics Syndromic Hearing Loss Panel
PGT-M Disease List
Invitae Carrier Screening the Insight Your Patients Need to Prepare for Tomorrow
My Story of Communication
Mendelian Disorders Among Jews
Usher Syndrome
Sema4 Carrier Screening Guide
Recessive Gene List V2.0
Disease ID Disorder Name Gene Symbols OMIM ID