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European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 11, pp. 1438 - 1450
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2015, Volume 23, Issue 12, pp. 1646 - 1651
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in... 
GENE-MUTATIONS | DUPLICATIONS | IDENTIFY | ALLELES | MECHANISM | BIOCHEMISTRY & MOLECULAR BIOLOGY | FREQUENCY | GENETICS & HEREDITY | END | PATIENT | PREVALENCE | IDENTIFICATION | Breakpoints | USH2A protein | Congenital diseases | Retinitis pigmentosa | Genes | Otolaryngology | Hearing impairment | Investigations | Hereditary diseases | Retinitis | Vestibular system | Mutation | Deoxyribonucleic acid--DNA
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 12/2015, Volume 23, Issue 12, pp. 1750 - 1750
Journal Article
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 2/2018, Volume 137, Issue 2, pp. 111 - 127
Journal Article
Cochlear Implants International, ISSN 1467-0100, 03/2019, Volume 20, Issue 2, pp. 100 - 103
A 10-year-old boy with fluctuating sensorineural hearing loss (SNHL) and biallelic mutations in the SLC26A4 gene and with inner ear anomalies received a... 
Pendred syndrome | Enlarged endolymphatic sacs | Temporal bone | SLC26A4 | Cochlear implantation | Enlarged vestibular aqueduct
Journal Article
Disease Models & Mechanisms, ISSN 1754-8403, 2017, Volume 10, Issue 2, pp. 105 - 118
A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of... 
FITM2 | Dystonia | Motor development | Hearing impairment | Lipid droplets | Drosophila | CELLS | LIPID DROPLET | ENDOPLASMIC-RETICULUM STRESS | PATHOLOGY | CELL BIOLOGY | FAT STORAGE | TRANSMEMBRANE PROTEIN-2 | METABOLISM | DISEASE | GENE-EXPRESSION | MORPHOLOGY | Ichthyosis - physiopathology | Deaf-Blind Disorders - blood | Humans | Male | Drosophila Proteins - metabolism | Motor Activity | Drosophila melanogaster - genetics | Gene Knockdown Techniques | Intellectual Disability - genetics | Dystonia - genetics | Intellectual Disability - blood | Young Adult | Adiposity | Ichthyosis - complications | Base Sequence | HEK293 Cells | Ichthyosis - genetics | Female | Membrane Proteins - metabolism | Lipid Droplets - metabolism | Child | Disease Models, Animal | Optic Atrophy - genetics | Sensory Receptor Cells - pathology | Membrane Proteins - genetics | Liver - metabolism | Gene Expression Regulation | Dystonia - physiopathology | Optic Atrophy - physiopathology | Dystonia - blood | Mutation - genetics | Whole Exome Sequencing | Deaf-Blind Disorders - physiopathology | Hearing Loss - genetics | Intellectual Disability - physiopathology | Homozygote | Locomotion | Animals | Pedigree | Audiometry, Pure-Tone | Drosophila Proteins - genetics | Deaf-Blind Disorders - genetics | Codon, Nonsense - genetics | Optic Atrophy - blood | Dros
Journal Article
Otology & Neurotology, ISSN 1531-7129, 03/2019, Volume 40, Issue 3, pp. e178 - e185
Journal Article