DOCSLIB.ORG
Explore
Sign Up
Log In
Upload
Search
Home
» Tags
» Nonsyndromic deafness
Nonsyndromic deafness
Benefits of Exome Sequencing in Children with Suspected Isolated
Dissertationes Medicinae Universitatis Tartuensis 178
The Pathological Consequences of Impaired Genome Integrity in Humans; Disorders of the DNA Replication Machinery
2021 Code Changes Reference Guide
Using Drosophila to Study Mechanisms of Hereditary Hearing Loss Tongchao Li1,*, Hugo J
Role of Transfer RNA Modification and Aminoacylation in the Etiology of Congenital Intellectual Disability
Case Report 12Q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
A Mouse Model for Nonsyndromic Deafness (DFNB12) Links Hearing Loss to Defects in Tip Links of Mechanosensory Hair Cells
A Comprehensive Review on Inherited Sensorineural Hearing Loss and Their Syndromes
WO 2015/048577 A2 April 2015 (02.04.2015) W P O P C T
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment
The Open Neurology Journal, 2016, 10, I-Xv I the Open Neurology Journal Supplementary Material Content List Available At
1557 TMPRSS3, a Type II Transmembrane Serine Protease
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations
Identification and Characterization of Genes for Non-Syndromic Deafness in the Israeli Population, Including Genes for Otoscler
Genetic Testing Medical Policy – Genetics
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms
Frequency of Usher Syndrome in Two Pediatric Populations: Implications for Genetic Screening of Deaf and Hard of Hearing Children William J
Top View
In Vitro Gentamicin Exposure Alters Caveolae Protein Profile in Cochlear Spiral Ligament Pericytes Elisa Ghelfi1* , Yohann Grondin1, Emil J
Bahauddin Zakariya University
Profound, Prelingual Nonsyndromic Deafness Maps to Chromosome 10Q21 and Is Caused by a Novel Missense Mutation in the Usher Syndrome Type IF Gene PCDH15
A New Nonsyndromic X-Linked Sensorineural Hearing Impairment Linked to Xp2 1.2 Anil K
MASARYKOVA UNIVERZITA Lékařská Fakulta
Deafness and Hereditary Hearing Loss Overview - Genereviews™ - NCBI Bookshelf Page 1 of 25
Zebrafish Models of Human Eye and Inner Ear Diseases
Cytogenetics and Gene Discovery in Psychiatric Disorders
Digenic Inheritance in Medical Genetics Alejandro a Schäffer
Clinical Aspects of Hereditary Hearing Loss Amit Kochhar, BS1, Michael S
Genetic Diseases of Junctions Joey E
US 2003/0170630 A1 Alsobrook, II Et Al
CDH23 Gene Cadherin Related 23
Molecular and Clinical Studies of X-Linked Deafness Among Pakistani Families
A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell Function
Characterisation and Genetic Mapping of a New X Linked Deafness Syndrome
Role of Genetic Factors in the Causation of Non-Syndromic Hearing Loss (NSHL) in Indian Population
Amino Acid Transport Defects in Human Inherited Metabolic Disorders
Improving Hearing Loss Gene Testing: a Systematic Review of Gene Evidence Toward More Efficient Next-Generation Sequencing–Based Diagnostic Testing and Interpretation
Molecular Genetic Studies of Deafness
Whole-Exome Sequencing Identifies a Novel Missense Variant Within LOXHD1 Causing Rare Hearing Loss in a Chinese Family
Finding New Genes for Non-Syndromic Hearing Loss Through an in Silico Prioritization Study
Understanding the Genetics of Deafness a Guide for Patients and Families
High-Content Protein Localization Screening in Vivo Reveals Novel Regulators of Multiciliated Cell Development and Function
The Genetics of Deafness
1 from the 2000 ASHG Annual Meeting Mutations in the EGF-CFC
Myosin-X Knockout Is Semi-Lethal and Demonstrates That Myosin
Name Jamil Ahmad Designation Professor
The Identification of the Genetic Defects Underlying Monogenic Recessive Hearing Loss at Arab Population
Mitochondrial Translation Defects and Human Disease
Md Phd Barbara Pawlik 22.11.2010
Genetic Hearing Loss
List of Entries Essays Are Shown in Bold
Cadherin) Mutations
Signalling Defects and Disease 12 1
Abstracts from the 52Nd European Society of Human Genetics (ESHG) Conference: Posters
Large-Scale Proteomics and Phosphoproteomics of Urinary Exosomes
Homozygous Loss of DIAPH1 Is a Novel Cause of Microcephaly in Humans
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy
All in One Application Note
Nonsyndromic Hearing Loss
Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations
Accepted Version
2021 Pathology & Lab CPT Updates
Nonsyndromic Deafness - Molecular Update
Actin-Binding Protein Function and Its Relation to Disease Pathology
Signalling Defects and Disease 12 1
Pathology and Laboratory Cpt Code Changes Effective January 1, 2017
Nonsyndromic Deafness (4/14)
Novel Form of X-Linked Nonsyndromic Hearing Loss with Cochlear Malformation Caused by a Mutation in the Type IV Collagen Gene COL4A6
Mendelian Disorders in the Non Jewish Population of Israel