X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (9) 9
adult (7) 7
hearing loss, sensorineural - genetics (6) 6
otorhinolaryngology (6) 6
pedigree (6) 6
phenotype (6) 6
audiometry, pure-tone (5) 5
female (5) 5
impairment (5) 5
male (5) 5
mutation (5) 5
adolescent (4) 4
deafness (4) 4
genetics & heredity (4) 4
hearing impairment (4) 4
index medicus (4) 4
proteins (4) 4
retinitis pigmentosa (4) 4
aged (3) 3
child (3) 3
dfna2/kcnq4 (3) 3
dna mutational analysis (3) 3
gene (3) 3
genotype (3) 3
genotype & phenotype (3) 3
hearing loss (3) 3
hearing loss, sensorineural - diagnosis (3) 3
middle aged (3) 3
netherlands (3) 3
neurosciences (3) 3
peptides (3) 3
vestibular diseases - genetics (3) 3
auditory threshold (2) 2
coch mutation (2) 2
dfna15 (2) 2
diffusion (2) 2
experiments (2) 2
expression (2) 2
family (2) 2
genes (2) 2
genetic aspects (2) 2
genetic hearing impairment (2) 2
genetic linkage (2) 2
health aspects (2) 2
hearing loss, sensorineural - physiopathology (2) 2
heterozygote (2) 2
homeodomain proteins - genetics (2) 2
localization (2) 2
membrane proteins - genetics (2) 2
membranes (2) 2
motility (2) 2
mutation, missense - genetics (2) 2
mutations (2) 2
nonsyndromic hearing-loss (2) 2
ophthalmology (2) 2
original paper (2) 2
point mutation (2) 2
polymorphism, single nucleotide (2) 2
pou4f3 (2) 2
proteomics (2) 2
research (2) 2
retinitis pigmentosa - genetics (2) 2
retinitis pigmentosa - physiopathology (2) 2
sense organs (2) 2
severity of illness index (2) 2
studies (2) 2
transcription factor (2) 2
transcription factor brn-3c - genetics (2) 2
vestibular diseases - physiopathology (2) 2
vestibular function tests (2) 2
vestibular impairment (2) 2
17q25 (1) 1
26 gene (1) 1
abnormalities, multiple (1) 1
actg1 (1) 1
actins - genetics (1) 1
adp-ribosylation factors - genetics (1) 1
adp-ribosylation factors - metabolism (1) 1
age factors (1) 1
amino acids (1) 1
animals (1) 1
arl13b (1) 1
audioprofile (1) 1
auditory threshold - physiology (1) 1
bardet-biedl syndrome - genetics (1) 1
bardet-biedl syndrome - pathology (1) 1
barriers (1) 1
base sequence (1) 1
beethoven (1) 1
biological sciences (1) 1
biological transport, active (1) 1
biological transport, active - genetics (1) 1
blindness (1) 1
bone diseases (1) 1
brn-3c (1) 1
c-elegans (1) 1
caenorhabditis elegans - genetics (1) 1
caenorhabditis elegans - metabolism (1) 1
caenorhabditis-elegans (1) 1
cellular proteins (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


PLoS Genetics, ISSN 1553-7390, 2013, Volume 9, Issue 12, p. e1003977
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of... 
COMPLEX | CAENORHABDITIS-ELEGANS | TRANSITION ZONE | ARL13B | SIGNALING PROTEINS | GENETICS & HEREDITY | TRAFFICKING | C-ELEGANS | CILIOGENESIS | SENSORY CILIA | INTRAFLAGELLAR TRANSPORT | Polycystic Kidney Diseases - genetics | Cytoskeletal Proteins - genetics | Humans | Biological Transport, Active - genetics | Cerebellum - abnormalities | Membranes - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Cerebellar Diseases - pathology | Bardet-Biedl Syndrome - pathology | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Cytoskeletal Proteins - metabolism | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Encephalocele - genetics | Caenorhabditis elegans - metabolism | Caenorhabditis elegans - genetics | Abnormalities, Multiple | Transcription Factors - genetics | Eye Abnormalities - genetics | Cilia - metabolism | Cilia - genetics | Kidney Diseases, Cystic - pathology | Transcription Factors - metabolism | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Ciliary Motility Disorders - genetics | Cilia and ciliary motion | Biological transport, Active | Joubert syndrome | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Proteins | Studies | Genotype & phenotype | Membranes | Motility | Peptides | Proteomics | Diffusion | Experiments
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2018, Volume 55, Issue 10, pp. 705 - 712
BackgroundRetinitis pigmentosa (RP) shows substantial genetic heterogeneity. It has been estimated that in approximately 60%–80% of RP cases, the genetic... 
molecular genetics | ophthalmology | vision research | clinical genetics | GENE | CILIUM | DISEASE | GENETICS & HEREDITY | RIBBON SYNAPSES | MUTATIONS | Phenotypes | Transcription | Pathogenesis | Retinitis pigmentosa | Data processing | Retina | Amino acids | Genomes | Gene expression | Patients | Population genetics | Genetic screening | Proteins | Gene frequency | Photoreceptors | Retinitis | Mutation | Methods
Journal Article
by DiStefano, Marina T and Hemphill, Sarah E and Oza, Andrea M and Siegert, Rebecca K and Grant, Andrew R and Hughes, Madeline Y and Cushman, Brandon J and Azaiez, Hela and Booth, Kevin T and Chapin, Alex and Duzkale, Hatice and Matsunaga, Tatsuo and Shen, Jun and Zhang, Wenying and Kenna, Margaret and Schimmenti, Lisa A and Tekin, Mustafa and Rehm, Heidi L and Tayoun, Ahmad N. Abou and Amr, Sami S and Abdelhak, Sonia and Alexander, John and Avraham, Karen and Bhatia, Neha and Bai, Donglin and Boczek, Nicole and Brownstein, Zippora and Burt, Rachel and Bylstra, Yasmin and del Castillo, Ignacio and Choi, Byung Yoon and Downie, Lilian and Friedman, Thomas and Giersch, Anne and Goh, Jasmine and Greinwald, John and Griffith, Andrew J and Hernandez, Amy and Holt, Jeffrey and Hosoya, Makoto and Ying, Lim Jiin and Jain, Kanika and Kim, Un-Kyung and Kremer, Hannie and Krantz, Ian and Leal, Suzanne and Lewis, Morag and Liu, Xue Zhong and Low, Wendy and Lu, Yu and Luo, Minjie and Masmoudi, Saber and Ming, Tan Yuen and Moreno-Pelayo, Miguel Angel and Morín, Matías and Morton, Cynthia and Murray, Jaclyn and Mutai, Hideki and Nara, Kiyomitsu and Pandya, Arti and Pei-Rong, Sylvia Kam and Smith, Richard J. H and Jamuar, Saumya Shekhar and Suer, Funda Elif and Usami, Shin-Ichi and Van Camp, Guy and Yamazawa, Kazuki and Yuan, Hui-Jun and Black-Zeigelbein, Elizabeth and Zhang, Keijan and ClinGen Hearing Loss Clinical Doma and ClinGen Hearing Loss Clinical Domain Working Group and on behalf of the ClinGen Hearing Loss Clinical Domain Working Group
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 10, pp. 2239 - 2247
Purpose: Proper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental... 
genetic diagnosis | hearing loss | deafness | ClinGen | gene curation | DIAGNOSIS | GUIDELINES | GENETICS & HEREDITY | DEAFNESS DFNB12 | ENLARGEMENT | KALLMANN-SYNDROME | MUTATIONS
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 12/2013, Volume 9, Issue 12
  Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised... 
Proteins | Studies | Genotype & phenotype | Membranes | Motility | Peptides | Proteomics | Diffusion | Experiments
Journal Article
Cilia, ISSN 2046-2530, 04/2012, Volume 1, Issue 1, pp. 2 - 2
Mutations in the gene for Usher syndrome 2A (USH2A) are causative for non-syndromic retinitis pigmentosa and Usher syndrome, a condition that is the most... 
Proteins | Usher's syndrome | Embryonic development | Cellular proteins | Gene mutations | Liver | Blindness
Journal Article
Human Mutation, ISSN 1059-7794, 7/2011, Volume 32, Issue 7, pp. 825 - 834
The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant non-syndromic hearing loss (ADNSHL), is unknown as comprehensive population-based... 
mid-frequency hearing loss | DFNA8 | DFNA12 | TECTA | high-frequency hearing loss
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.