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TAS2R38 Genotype Does Not Affect SARS-CoV-2 Infection in Primary Ciliary Dyskinesia.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8635, doi. 10.3390/ijms25168635
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- Article
PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.
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- Scientific Reports, 2015, p. 18568, doi. 10.1038/srep18568
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- Article
Association of SNPs in LCP1 and CTIF with hearing in 11 year old children: Findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort and the G-EAR consortium.
- Published in:
- BMC Medical Genomics, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s12920-015-0112-2
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- Article
Increased Rate of Deleterious Variants in Long Runs of Homozygosity of an Inbred Population from Qatar.
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- Human Heredity, 2015, v. 79, n. 1, p. 14, doi. 10.1159/000371387
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- Article
Consanguinity and Hereditary Hearing Loss in Qatar.
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- Human Heredity, 2014, v. 77, n. 1-4, p. 175, doi. 10.1159/000360475
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- Article
Proangiogenic properties of complement protein C1q can contribute to endometriosis.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1405597
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- Publication type:
- Article
Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1161696
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- Article
The p.Cys169Tyr variant of connexin 26 is not a polymorphism.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2641, doi. 10.1093/hmg/ddv026
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- Article
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6407, doi. 10.1093/hmg/ddu346
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- Article
Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population.
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- BMC Genomic Data, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12863-022-01087-1
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- Publication type:
- Article
Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population.
- Published in:
- BMC Genomic Data, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12863-022-01087-1
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- Publication type:
- Article
Sensory Capacities and Eating Behavior: Intriguing Results from a Large Cohort of Italian Individuals.
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- Foods, 2022, v. 11, n. 5, p. 735, doi. 10.3390/foods11050735
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- Article
Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders.
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- Audiology Research, 2023, v. 13, n. 6, p. 989, doi. 10.3390/audiolres13060086
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- Article
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
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- Audiology Research, 2023, v. 13, n. 3, p. 341, doi. 10.3390/audiolres13030029
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- Publication type:
- Article
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 250, doi. 10.3390/genes14020250
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- Article
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.
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- Genes, 2022, v. 13, n. 11, p. 2023, doi. 10.3390/genes13112023
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- Article
Genetic Dissection of Temperament Personality Traits in Italian Isolates.
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- Genes, 2022, v. 13, n. 1, p. 4, doi. 10.3390/genes13010004
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- Article
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
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- Genes, 2021, v. 12, n. 10, p. 1569, doi. 10.3390/genes12101569
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- Article
Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability.
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- Genes, 2021, v. 12, n. 8, p. 1228, doi. 10.3390/genes12081228
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- Article
Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene.
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- Genes, 2021, v. 12, n. 7, p. 1043, doi. 10.3390/genes12071043
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- Article
The Role of Knockout Olfactory Receptor Genes in Odor Discrimination.
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- Genes, 2021, v. 12, n. 5, p. 631, doi. 10.3390/genes12050631
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- Publication type:
- Article
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1237, doi. 10.3390/genes11111237
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- Publication type:
- Article
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss.
- Published in:
- eLife, 2018, p. 1, doi. 10.7554/eLife.31511
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- Publication type:
- Article
Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity.
- Published in:
- International Archives of Allergy & Immunology, 2020, v. 181, n. 9, p. 727, doi. 10.1159/000508938
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- Publication type:
- Article
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation.
- Published in:
- Journal of International Advanced Otology, 2021, v. 17, n. 1, p. 81, doi. 10.5152/iao.2020.8179
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- Article
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.
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- European Journal of Haematology, 2010, v. 84, n. 4, p. 291, doi. 10.1111/j.1600-0609.2009.01398.x
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- Article
Expression and Replication Studies to Identify New Candidate Genes Involved in Normal Hearing Function.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085352
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- Article
Linkage Study and Exome Sequencing Identify a <i>BDP1</i> Mutation Associated with Hereditary Hearing Loss.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0080323
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- Article
Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations.
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- 2016
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- Publication type:
- journal article
The Women4Health cohort: a unique cohort to study women-specific mechanisms of cardio-metabolic regulation.
- Published in:
- European Heart Journal Open, 2024, v. 4, n. 2, p. 1, doi. 10.1093/ehjopen/oeae012
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- Publication type:
- Article
Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort.
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- Biomedicines, 2024, v. 12, n. 2, p. 304, doi. 10.3390/biomedicines12020304
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- Publication type:
- Article
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort.
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- Biomedicines, 2023, v. 11, n. 8, p. 2122, doi. 10.3390/biomedicines11082122
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- Article
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
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- Biomedicines, 2023, v. 11, n. 3, p. 703, doi. 10.3390/biomedicines11030703
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- Publication type:
- Article
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.
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- Biomedicines, 2022, v. 10, n. 1, p. 12, doi. 10.3390/biomedicines10010012
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- Article
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 213, doi. 10.1002/humu.24145
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- Article
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2286, doi. 10.1002/humu.23891
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- Publication type:
- Article
Odontostomatological Traits in North-Eastern Italy's Isolated Populations: An Epidemiological Cross-Sectional Study.
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- Journal of Clinical Medicine, 2023, v. 12, n. 7, p. 2746, doi. 10.3390/jcm12072746
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- Publication type:
- Article
The Bittersweet Symphony of COVID-19: Associations between TAS1Rs and TAS2R38 Genetic Variations and COVID-19 Symptoms.
- Published in:
- Life (2075-1729), 2024, v. 14, n. 2, p. 219, doi. 10.3390/life14020219
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- Publication type:
- Article
High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis.
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- Journal of Personalized Medicine, 2022, v. 12, n. 10, p. 1618, doi. 10.3390/jpm12101618
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- Article
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00142
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- Publication type:
- Article
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 19, p. 5655, doi. 10.1093/hmg/ddv279
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- Publication type:
- Article
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2652, doi. 10.1002/ajmg.a.62852
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- Publication type:
- Article
Chronic Rhinosinusitis: T2r38 Genotyping and Nasal Cytology in Primary Ciliary Dyskinesia.
- Published in:
- Laryngoscope, 2023, v. 133, n. 2, p. 248, doi. 10.1002/lary.30112
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- Publication type:
- Article
Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2143
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- Publication type:
- Article
Genetic insights of all‐cause and vascular dementia through genome‐wide association studies.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 3, p. 1, doi. 10.1002/alz.067165
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- Publication type:
- Article
A meta‐analysis of genome‐wide association studies identifies new genetic loci associated with all‐cause and vascular dementia.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.056081
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- Article
Genetic landscape of populations along the Silk Road: admixture and migration patterns.
- Published in:
- BMC Genetics, 2014, v. 15, n. 1, p. 70, doi. 10.1186/s12863-014-0131-6
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- Publication type:
- Article