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Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09740-x
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- Publication type:
- Article
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.
- Published in:
- Biochemical Genetics, 2024, v. 62, n. 3, p. 1914, doi. 10.1007/s10528-023-10515-5
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- Publication type:
- Article
Novel pathogenic WHRN variant causing hearing loss in a moroccan family.
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- Molecular Biology Reports, 2023, v. 50, n. 12, p. 10663, doi. 10.1007/s11033-023-08901-8
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- Publication type:
- Article
Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2023, v. 280, n. 9, p. 4057, doi. 10.1007/s00405-023-07907-z
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- Publication type:
- Article
Examining Resident Power Building in a Place-Based Initiative.
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- Health Promotion Practice, 2022, v. 23, n. 6, p. 955, doi. 10.1177/15248399211045355
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- Publication type:
- Article
Otologie et audiologie, un parcours de soin en pleine mutation à la lumière des avancées scientifiques.
- Published in:
- 2022
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- Publication type:
- Editorial
Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.
- Published in:
- Molecular Biology Reports, 2022, v. 49, n. 5, p. 3949, doi. 10.1007/s11033-022-07245-z
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- Publication type:
- Article
Central auditory deficits associated with genetic forms of peripheral deafness.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 335, doi. 10.1007/s00439-021-02339-3
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- Publication type:
- Article
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10352, doi. 10.3390/ijms221910352
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- Publication type:
- Article
Phylogenetic analysis of Harmonin homology domains.
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- BMC Bioinformatics, 2021, v. 22, p. 1, doi. 10.1186/s12859-021-04116-5
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- Publication type:
- Article
Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis.
- Published in:
- Frontiers in Aging Neuroscience, 2021, v. 13, p. N.PAG, doi. 10.3389/fnagi.2021.640522
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- Publication type:
- Article
Rheological investigation of supramolecular physical gels in water/dimethylsulfoxide mixtures by lysine derivatives.
- Published in:
- Polymer International, 2021, v. 70, n. 3, p. 256, doi. 10.1002/pi.6179
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- Publication type:
- Article
L'anémone de mer Nematostella vectensis: Un modèle émergent pour la recherche biomédicale : mécano-sensibilité, régénération et longévité.
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- Médecine Sciences, 2021, v. 37, n. 2, p. 167, doi. 10.1051/medsci/2020282
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- Publication type:
- Article
Spontaneous Mouse Behavior in Presence of Dissonance and Acoustic Roughness.
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- Frontiers in Behavioral Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnbeh.2020.588834
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- Publication type:
- Article
Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73158-1
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- Publication type:
- Article
Both metal-chelating and free radical-scavenging synthetic pentapeptides as efficient inhibitors of reactive oxygen species generation.
- Published in:
- Metallomics, 2020, v. 12, n. 8, p. 1220, doi. 10.1039/d0mt00103a
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- Publication type:
- Article
A Novel Heterozygous Missense Variant (c.667G>T;p. Gly223Cys) in USH1C That Interferes With Cadherin- Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
- Published in:
- Annals of Laboratory Medicine, 2020, v. 40, n. 3, p. 224, doi. 10.3343/alm.2020.40.3.224
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- Publication type:
- Article
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
- Published in:
- Human Heredity, 2020, v. 85, n. 1, p. 35, doi. 10.1159/000512712
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- Publication type:
- Article
Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy.
- Published in:
- Genes, 2019, v. 10, n. 12, p. 956, doi. 10.3390/genes10120956
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- Publication type:
- Article
Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation.
- Published in:
- Genes, 2019, v. 10, n. 12, p. 1015, doi. 10.3390/genes10121015
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- Publication type:
- Article
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
- Published in:
- International Journal of Dermatology, 2019, v. 58, n. 12, p. 1439, doi. 10.1111/ijd.14452
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- Publication type:
- Article
A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family.
- Published in:
- European Journal of Ophthalmology, 2019, v. 29, n. 6, p. 621, doi. 10.1177/1120672118804757
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- Publication type:
- Article
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
- Published in:
- Documenta Ophthalmologica, 2019, v. 139, n. 2, p. 151, doi. 10.1007/s10633-019-09704-8
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- Publication type:
- Article
DNABarcodeCompatibility: an R-package for optimizing DNA-barcode combinations in multiplex sequencing experiments.
- Published in:
- Bioinformatics, 2019, v. 35, n. 15, p. 2690, doi. 10.1093/bioinformatics/bty1030
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- Publication type:
- Article
Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness.
- Published in:
- Human Heredity, 2019, v. 84, n. 3, p. 109, doi. 10.1159/000503450
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- Publication type:
- Article
Viral Transfer of Mini-Otoferlins Partially Restores the Fast Component of Exocytosis and Uncovers Ultrafast Endocytosis in Auditory Hair Cells of Otoferlin Knock-Out Mice.
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- Journal of Neuroscience, 2019, v. 39, n. 18, p. 3394, doi. 10.1523/JNEUROSCI.1550-18.2018
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- Publication type:
- Article
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
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- Molecular Vision, 2019, v. 25, p. 373
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- Publication type:
- Article
Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06307-w
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- Publication type:
- Article
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
Otoferlin acts as a Ca<sup>2+</sup> sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.31013.001
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- Publication type:
- Article
Impact of C<sup>α</sup>-Chirality on Supramolecular Self-Assembly in Cyclo-2:1-[α/aza]-Hexamers (D/L-Phe-azaPhe-Ala)<sub>2</sub>.
- Published in:
- European Journal of Organic Chemistry, 2017, v. 2017, n. 32, p. 4703, doi. 10.1002/ejoc.201700555
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- Publication type:
- Article
Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.
- Published in:
- FEBS Letters, 2017, v. 591, n. 15, p. 2299, doi. 10.1002/1873-3468.12729
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- Publication type:
- Article
Different Ca<sub>V</sub>1.3 Channel Isoforms Control Distinct Components of the Synaptic Vesicle Cycle in Auditory Inner Hair Cells.
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- Journal of Neuroscience, 2017, v. 37, n. 11, p. 2960, doi. 10.1523/JNEUROSCI.2374-16.2017
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- Publication type:
- Article
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0161893
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- Publication type:
- Article
Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity.
- Published in:
- Annals of Human Genetics, 2015, v. 79, n. 6, p. 402, doi. 10.1111/ahg.12131
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- Publication type:
- Article
Synaptic F-actin network controls otoferlin-dependent exocytosis in auditory inner hair cells.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.10988
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- Publication type:
- Article
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0316-8
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- Publication type:
- Article
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 96, doi. 10.1186/s13023-015-0316-8
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- Publication type:
- Article
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 189, doi. 10.1002/mgg3.131
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- Publication type:
- Article
Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120584
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- Publication type:
- Article
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.
- Published in:
- 2015
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- Publication type:
- journal article
Genetics of auditory mechano-electrical transduction.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2015, v. 467, n. 1, p. 49, doi. 10.1007/s00424-014-1552-9
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- Publication type:
- Article
Synthesis and Structural Characterization of 2:1 [α/Aza]-oligomers.
- Published in:
- European Journal of Organic Chemistry, 2014, v. 2014, n. 34, p. 7643, doi. 10.1002/ejoc.201402628
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- Publication type:
- Article
Unprecedented Chain-Length-Dependent Conformational Conversion Between 11/9 and 18/16 Helix in α/β-Hybrid Peptides.
- Published in:
- Angewandte Chemie, 2014, v. 126, n. 48, p. 13347, doi. 10.1002/ange.201407329
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- Publication type:
- Article
Unprecedented Chain-Length-Dependent Conformational Conversion Between 11/9 and 18/16 Helix in α/β-Hybrid Peptides.
- Published in:
- Angewandte Chemie International Edition, 2014, v. 53, n. 48, p. 13131, doi. 10.1002/anie.201407329
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- Publication type:
- Article
Exocytotic Machineries of Vestibular Type I and Cochlear Ribbon Synapses Display Similar IntrinsicOtoferlin- Dependent Ca<sup>2+</sup> Sensitivity But a Different Coupling to Ca<sup>2+</sup> Channels.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 33, p. 10853, doi. 10.1523/JNEUROSCI.0947-14.2014
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- Publication type:
- Article
Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0103133
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- Publication type:
- Article
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 7, p. 984, doi. 10.15252/emmm.201403976
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- Publication type:
- Article
Specific Aspects of Consanguinity: Some Examples from the Tunisian Population.
- Published in:
- Human Heredity, 2014, v. 77, n. 1-4, p. 167, doi. 10.1159/000362167
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- Publication type:
- Article