Found: 177
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Functional evaluation of rare variants in complement factor I using a minigene assay.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1446081
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- Publication type:
- Article
Mutation-agnostic RNA interference with engineered replacement rescues Tmc1-related hearing loss.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 3, p. 1, doi. 10.26508/lsa.202201592
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- Publication type:
- Article
Rapid genome sequencing identifies novel variants in complement factor I.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006239
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- Publication type:
- Article
Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.
- Published in:
- Human Genetics, 2010, v. 127, n. 2, p. 155, doi. 10.1007/s00439-009-0754-2
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- Publication type:
- Article
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
- Published in:
- Human Genetics, 2002, v. 110, n. 5, p. 389, doi. 10.1007/s00439-002-0719-1
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- Publication type:
- Article
Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment.
- Published in:
- Human Genetics, 2000, v. 107, n. 1, p. 7, doi. 10.1007/s004390050002
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- Publication type:
- Article
Eltrombopag Improves Erythroid Differentiation in a Human Induced Pluripotent Stem Cell Model of Diamond Blackfan Anemia.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 4, p. 734, doi. 10.3390/cells10040734
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- Publication type:
- Article
Modeling C3 glomerulopathies: C3 convertase regulation on an extracellular matrix surface.
- Published in:
- Frontiers in Immunology, 2023, v. 14, p. 01, doi. 10.3389/fimmu.2022.1073802
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- Publication type:
- Article
Complement Factor I Variants in Complement-Mediated Renal Diseases.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.866330
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- Publication type:
- Article
Recurrent Tonsillitis Among Twins Heritability of Recurrent Tonsillitis.
- Published in:
- 2005
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- Publication type:
- Other
Grxcr2 is required for stereocilia morphogenesis in the cochlea.
- Published in:
- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201713
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- Publication type:
- Article
Revenge and Conflict Escalation.
- Published in:
- Negotiation Journal, 1993, v. 9, n. 1, p. 37, doi. 10.1007/bf01000414
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- Publication type:
- Article
Association of Bone Morphogenetic Proteins With Otosclerosis.
- Published in:
- Journal of Bone & Mineral Research, 2008, v. 23, n. 4, p. 507, doi. 10.1359/JBMR.071112
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- Publication type:
- Article
Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.
- Published in:
- BMC Genomics, 2012, v. 13, n. 1, p. 618, doi. 10.1186/1471-2164-13-618
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- Publication type:
- Article
Consortium of Otolaryngology – Head and Neck Surgery Journals to Collaborate in Maintenance of High Ethical Standards.
- Published in:
- Audiology & Neurotology, 2005, v. 10, n. 6, p. 303, doi. 10.1159/000087346
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- Publication type:
- Article
Baculovirus: an Insect-derived Vector for Diverse Gene Transfer Applications.
- Published in:
- Molecular Therapy, 2013, v. 21, n. 4, p. 739, doi. 10.1038/mt.2012.286
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- Publication type:
- Article
In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-32630-9
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- Publication type:
- Article
Consortium of otolaryngology--head and neck surgery journals to collaborate in maintenance of high ethical standards.
- Published in:
- 2005
- By:
- Publication type:
- Editorial
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 6, p. 549, doi. 10.1007/s10038-007-0137-2
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- Publication type:
- Article
Reducing Spread of Infections with a Photocatalytic Reactor--Potential Applications in Control of Hospital Staphylococcus aureus and Clostridioides difficile Infections and Inactivation of RNA Viruses.
- Published in:
- Infectious Disease Reports, 2021, v. 13, n. 1, p. 58, doi. 10.3390/idr13010008
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- Publication type:
- Article
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1207, doi. 10.1038/ejhg.2014.266
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- Publication type:
- Article
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
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- International Journal of Molecular Sciences, 2020, v. 21, n. 11, p. 3951, doi. 10.3390/ijms21113951
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- Publication type:
- Article
Schadenfreude as a mate-value-tracking mechanism: Replication and extension of Colyn and Gordon (2013).
- Published in:
- Personal Relationships, 2015, v. 22, n. 2, p. 299, doi. 10.1111/pere.12081
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- Publication type:
- Article
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 821, doi. 10.1002/acn3.224
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- Publication type:
- Article
Factor B and C4b2a Autoantibodies in C3 Glomerulopathy.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00668
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- Publication type:
- Article
Genome-Wide Analysis of Off-Target CRISPR/Cas9 Activity in Single-Cell-Derived Human Hematopoietic Stem and Progenitor Cell Clones.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1501, doi. 10.3390/genes11121501
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- Publication type:
- Article
Relativistic origins of emotional reactions to events happening to others and to ourselves.
- Published in:
- British Journal of Social Psychology, 2006, v. 45, n. 2, p. 357, doi. 10.1348/014466605X40987
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- Publication type:
- Article
Knowledge-based causal inference: Norms and the usefulness of distinctiveness.
- Published in:
- British Journal of Social Psychology, 1992, v. 31, n. 3, p. 239, doi. 10.1111/j.2044-8309.1992.tb00968.x
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- Publication type:
- Article
The roles of outcome satisfaction and comparison alternatives in envy.
- Published in:
- British Journal of Social Psychology, 1990, v. 29, n. 3, p. 247, doi. 10.1111/j.2044-8309.1990.tb00903.x
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- Publication type:
- Article
Genetic male infertility and mutation of CATSPER ion channels.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1178, doi. 10.1038/ejhg.2010.108
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- Publication type:
- Article
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 3, p. 362, doi. 10.1038/sj.ejhg.5201761
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- Publication type:
- Article
Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 11, p. 757, doi. 10.1038/sj.ejhg.5200877
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- Publication type:
- Article
Flexible models for planning repair of complex tracheal anomalies.
- Published in:
- 2012
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- Publication type:
- Journal Article
Use of portfolios in otolaryngology graduate medical education.
- Published in:
- Laryngoscope, 2011, v. 121, n. 6, p. 1173, doi. 10.1002/lary.21803
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- Publication type:
- Article
The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population.
- Published in:
- Laryngoscope, 2011, v. 121, n. 6, p. 1184, doi. 10.1002/lary.21778
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- Publication type:
- Article
Pediatric endoscopic airway management with posterior cricoid rib grafting.
- Published in:
- Laryngoscope, 2011, v. 121, n. 5, p. 1062, doi. 10.1002/lary.21579
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- Publication type:
- Article
Current treatment paradigms in the management of lymphatic malformations.
- Published in:
- Laryngoscope, 2011, v. 121, n. 1, p. 56, doi. 10.1002/lary.20768
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- Publication type:
- Article
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
- Published in:
- Laryngoscope, 2010, v. 120, n. 12, p. 2489, doi. 10.1002/lary.21159
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- Publication type:
- Article
Degrees of dysplasia and the use of cidofovir in patients with recurrent respiratory papillomatosis.
- Published in:
- Laryngoscope, 2010, v. 120, n. 4, p. 698, doi. 10.1002/lary.20785
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- Publication type:
- Article
A Contemporary Review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.
- Published in:
- Laryngoscope, 2009, v. 119, n. 11, p. 2211, doi. 10.1002/lary.20664
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- Publication type:
- Article
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
- Published in:
- Laryngoscope, 2009, v. 119, n. 4, p. 727, doi. 10.1002/lary.20116
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- Publication type:
- Article
Monitoring stress levels in postgraduate medical training.
- Published in:
- Laryngoscope, 2009, v. 119, n. 1, p. 75, doi. 10.1002/lary.20013
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- Publication type:
- Article
Efficacy and safety of OK-432 immunotherapy of lymphatic malformations.
- Published in:
- Laryngoscope, 2009, v. 119, n. 1, p. 107, doi. 10.1002/lary.20041
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- Publication type:
- Article
In reference to temporal bone imaging in GJB2 deafness.
- Published in:
- 2007
- By:
- Publication type:
- letter
Hearing genes and cisplatin deafness: a pilot study.
- Published in:
- 2006
- By:
- Publication type:
- journal article
The effect of GJB2 allele variants on performance after cochlear implantation.
- Published in:
- 2003
- By:
- Publication type:
- journal article
The Effect of GJB2 Allele Variants on Performance After Cochlear Implantation.
- Published in:
- Laryngoscope, 2003, v. 113, n. 12, p. 2135
- By:
- Publication type:
- Article
Genetic Testing and Genetic Counseling for Deafness: The Future Is Here.
- Published in:
- Laryngoscope, 2001, v. 111, n. 4, p. 715, doi. 10.1097/00005537-200104000-00027
- By:
- Publication type:
- Article
Age-Related Mitochondrial DNA Mutations in the Human Larynx.
- Published in:
- Laryngoscope, 2000, v. 110, n. 12, p. 2123, doi. 10.1097/00005537-200012000-00029
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- Publication type:
- Article
Temporal Bone Histopathology in Connexin 26-Related Hearing Loss.
- Published in:
- Laryngoscope, 2000, v. 110, n. 2, p. 269, doi. 10.1097/00005537-200002010-00016
- By:
- Publication type:
- Article