X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (48) 48
humans (43) 43
non-syndromic deafness (35) 35
deafness (31) 31
genetics & heredity (24) 24
mutation (24) 24
hearing loss (22) 22
deafness - genetics (20) 20
female (18) 18
genetic aspects (16) 16
pedigree (16) 16
genes (15) 15
male (15) 15
otorhinolaryngologic diseases (14) 14
hearing impairment (13) 13
otorhinolaryngology (13) 13
adult (12) 12
mutations (12) 12
animals (11) 11
hearing loss - genetics (11) 11
hearing loss, sensorineural - genetics (11) 11
family (10) 10
gene (10) 10
genetics (10) 10
recessive deafness (10) 10
sensorineural deafness (10) 10
genetic testing (9) 9
non-syndromic (9) 9
phenotype (9) 9
usher-syndrome (9) 9
analysis (8) 8
child (8) 8
mice (8) 8
article (7) 7
connexins - genetics (7) 7
middle aged (7) 7
myosin viia gene (7) 7
myosin-viia gene (7) 7
neurosciences (7) 7
non-syndromic hearing loss (7) 7
otolaryngology (7) 7
pediatrics (7) 7
retinitis pigmentosa (7) 7
sensorineural hearing-loss (7) 7
adolescent (6) 6
child, preschool (6) 6
consanguinity (6) 6
gene mutations (6) 6
genomics (6) 6
myosins - genetics (6) 6
ribosomal-rna mutation (6) 6
syndrome (6) 6
biochemistry & molecular biology (5) 5
connexins (5) 5
deafness - diagnosis (5) 5
deoxyribonucleic acid--dna (5) 5
disease models, animal (5) 5
dna mutational analysis (5) 5
dna sequencing (5) 5
dna, mitochondrial - genetics (5) 5
genetic disorders (5) 5
hearing (5) 5
hearing-loss (5) 5
impairment (5) 5
infant (5) 5
medicine (5) 5
medicine, research & experimental (5) 5
missense mutation (5) 5
mitochondrial dna (5) 5
mutation - genetics (5) 5
nonsyndromic hearing-loss (5) 5
pendred-syndrome (5) 5
retinitis-pigmentosa (5) 5
usher syndrome (5) 5
young adult (5) 5
a1555g mutation (4) 4
aged (4) 4
autosomal recessive deafness (4) 4
cadherins - genetics (4) 4
carrier proteins - genetics (4) 4
children (4) 4
connexin 26 (4) 4
deafness - epidemiology (4) 4
diagnosis (4) 4
genetic linkage (4) 4
genetic research (4) 4
genotype-phenotype correlation (4) 4
hair-cells (4) 4
hearing loss, sensorineural - diagnosis (4) 4
identification (4) 4
inner-ear (4) 4
leber congenital amaurosis (4) 4
non‐syndromic hearing loss (4) 4
nucleotide sequencing (4) 4
ophthalmology (4) 4
prevalence (4) 4
proteins (4) 4
research (4) 4
alleles (3) 3
asian continental ancestry group - genetics (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Medical Genetics, ISSN 0022-2593, 2017, Volume 54, Issue 9, pp. 624 - 632
Journal Article
Seminars in Ophthalmology, ISSN 0882-0538, 05/2018, Volume 33, Issue 4, pp. 560 - 565
Purpose: EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related... 
hearing impairment | genetic disorder | non-syndromic retinitis pigmentosa | rod-cone dysfunction | EYS gene | GENOTYPE-PHENOTYPE CORRELATION | POPULATION | FREQUENT | 2299DELG | SYNDROME TYPE-II | LARGE COHORT | LONG ISOFORM | GENE | SYNDROME TYPE-2 | OPHTHALMOLOGY | SPECTRUM | Index Medicus
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 1995, Volume 48, Issue 3, pp. 120 - 122
Retinitis pigmentosa is a term commonly given to a group of inherited and progressive disorders which affect the photoreceptors of the retina, As part of an... 
Non-syndromic RP | Genetic types | Syndromic RP | Retinitis pigmentosa | Spain | non‐syndromic RP | GENETIC TYPES | NON-SYNDROMIC RP | RETINITIS PIGMENTOSA | GENETICS & HEREDITY | PREVALENCE | SYNDROMIC RP | SPAIN
Journal Article
ARCHIVES OF IRANIAN MEDICINE, ISSN 1029-2977, 11/2015, Volume 18, Issue 11, pp. 776 - 785
Background: Non-syndromic autosomal recessive Retinits Pigmentosa (arRP) is a highly heterogeneous genetic visual disorder with a large number of causative... 
SEVERE RETINAL DYSTROPHY | MACULAR DEGENERATION | PIGMENTOSA | IDENTIFICATION | whole exome sequencing | ABCA4 GENE | MEDICINE, GENERAL & INTERNAL | Autosomal recessive | LEBER CONGENITAL AMAUROSIS | CHILDHOOD BLINDNESS | Iran | consanguinity | MOLECULAR DIAGNOSIS | non-syndromic | retinitis pigmentosa | MUTATIONS | STARGARDT-DISEASE
Journal Article
Journal Article
Journal Article
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 10/2017, Volume 21, Issue 10, pp. 2329 - 2343
Primary ubiquinone (co‐enzyme Q) deficiency results in a wide range of clinical features due to mitochondrial dysfunction. Here, we analyse and characterize... 
ubiquinone | primary ubiquinone deficiency | mitochondrial dysfunction | 2,4‐dihydroxybenzoic acid | COQ7 | coenzyme Q | 2,4-dihydroxybenzoic acid | MEDICINE, RESEARCH & EXPERIMENTAL | SENSORINEURAL HEARING-LOSS | COQ DEFICIENCY | CLINICAL-FEATURES | COENZYME Q DEFICIENCY | RIBOSOMAL-RNA MUTATION | CELL BIOLOGY | 2, 4-dihydroxybenzoic acid | MITOCHONDRIAL RESPIRATION | CAENORHABDITIS-ELEGANS | CEREBELLAR-ATAXIA | NON-SYNDROMIC DEAFNESS | UBIQUINONE BIOSYNTHESIS | Spastic Paraplegia, Hereditary - genetics | Spastic Paraplegia, Hereditary - diagnosis | Humans | Ubiquinone - metabolism | Mixed Function Oxygenases - metabolism | Mitochondrial Proteins - genetics | Spastic Paraplegia, Hereditary - metabolism | Hydroxybenzoates - pharmacology | DNA, Mitochondrial - genetics | DNA Mutational Analysis | Mitochondrial Proteins - metabolism | Base Sequence | Female | Membrane Proteins - metabolism | Child | DNA, Mitochondrial - chemistry | Fibroblasts - metabolism | Cell Line | Membrane Proteins - genetics | Mice, Knockout | Animals | Fibroblasts - drug effects | Consanguinity | Fibroblasts - cytology | Mutation | Mixed Function Oxygenases - genetics | Enzymes | Gene mutations | Analysis | Genes | Physiological aspects | Genetic aspects | Mitochondrial DNA | Genetic polymorphisms | Pathogens | Enzyme activity | Spasticity | Biosynthesis | Hearing impairment | Hearing loss | Pathogenicity | Hearing | Ubiquinone | Enzymatic activity | Cell lines | Deoxyribonucleic acid--DNA | Polymorphism | Index Medicus | Original
Journal Article