Works matching Genetics of deafness
Results: 1189
Parental Perspective of the Benefits of Genetic Testing in Children with Congenital Deafness.
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- Public Health Genomics, 2009, v. 12, n. 4, p. 245, doi. 10.1159/000203780
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- Article
The first survey of distribution of inherited deafness patterns in individuals referred to genetic center of Ahvaz welfare organization, Southern Iran.
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- Audiology, 2011, v. 20, n. 2, p. 72
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- Article
Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness.
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- American Journal of Audiology, 2024, v. 33, n. 1, p. 233, doi. 10.1044/2023_AJA-23-00153
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- Article
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.
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- 2008
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- Correction Notice
Hearing Status Influences Attitudes Toward Genetic Testing for Deafness.
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- Journal of Genetic Counseling, 2002, v. 11, n. 6, p. 530
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- Article
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.
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- Human Genetics, 2002, v. 110, n. 3, p. 284, doi. 10.1007/s00439-001-0674-2
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- Article
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
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- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151909
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- Article
Short Report Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.
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- Clinical Genetics, 2004, v. 65, n. 5, p. 384, doi. 10.1111/j.0009-9163.2004.00235.x
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- Article
Ultrastructure of the Hair in Genetic Prelingual Deafness Associated with the 35delG Mutation in the Connexin 26 Gene (GJB2).
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- Bulletin of Experimental Biology & Medicine, 2009, v. 148, n. 1, p. 79, doi. 10.1007/s10517-009-0637-5
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- Article
Hereditary deafness: lessons for developmental studies and genetic diagnosis.
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- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S232, doi. 10.1007/PL00014409
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- Article
Advances in Molecular Genetics and the Molecular Biology of Deafness.
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- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/5629093
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- Article
Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-85
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- Article
Genetics of Deafness.
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- 2018
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- Book Review
Hearing molecules: contributions from genetic deafness.
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- Cellular & Molecular Life Sciences, 2007, v. 64, n. 5, p. 566, doi. 10.1007/s00018-007-6417-3
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- Article
GJB2 GENE; ITS CONTRIBUTION TO GENETIC DEAFNESS? : A REVIEW.
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- Professional Medical Journal, 2015, v. 22, n. 2, p. 149, doi. 10.29309/tpmj/2015.22.02.1362
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- Article
Genetic Testing and Genetic Counseling for Deafness: The Future Is Here.
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- Laryngoscope, 2001, v. 111, n. 4, p. 715, doi. 10.1097/00005537-200104000-00027
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- Article
Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort.
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- Audiology & Neurotology, 2025, v. 30, n. 1, p. 70, doi. 10.1159/000540202
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- Article
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
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- International Journal of Audiology, 2013, v. 52, n. 1, p. 23, doi. 10.3109/14992027.2012.736032
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- Article
Clinical profile of hearing loss in children with congenital cytomegalovirus (CMV) infection: CMV DNA diagnosis using preserved umbilical cord.
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- Acta Oto-Laryngologica, 2011, v. 131, n. 9, p. 976, doi. 10.3109/00016489.2011.583268
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- Article
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
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- Acta Oto-Laryngologica, 2008, v. 128, n. 4, p. 446, doi. 10.1080/00016480701785046
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- Article
Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness.
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- Otolaryngology-Head & Neck Surgery, 2012, v. 147, n. 5, p. 975, doi. 10.1177/0194599812454271
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- Article
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
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- Journal of Human Genetics, 2009, v. 54, n. 5, p. 266, doi. 10.1038/jhg.2009.21
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- Article
The genetic bases for non-syndromic hearing loss among Chinese.
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- Journal of Human Genetics, 2009, v. 54, n. 3, p. 131, doi. 10.1038/jhg.2009.4
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- Article
NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.
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- Neural Plasticity, 2016, p. 1, doi. 10.1155/2016/3018132
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- Article
Preimplantation Genetic Diagnosis: Its Role in Prevention of Deafness.
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- 2014
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- Publication type:
- Editorial
نقش مشاوره ژنتیک در پیشگیری از ناتوانی ذهنی و ناشنوایی دو معلولیت شایع در ایران.
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- Journal of Gorgan University of Medical Sciences, 2024, v. 26, n. 1, p. 1
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- Article
Confronting Genetic Research and Genetic Counseling in Historical Deaf Research.
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- American Annals of the Deaf, 2022, v. 167, n. 4, p. 1, doi. 10.1353/aad.2022.0048
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- Article
GJB2 and mitochondrial 12S rRNA susceptibility mutations in sudden deafness.
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- European Archives of Oto-Rhino-Laryngology, 2016, v. 273, n. 6, p. 1393, doi. 10.1007/s00405-015-3693-7
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- Article
AAV-mediated precision treatment of SchABE8e in the pou4f3Q113*/+ mouse model.
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- Journal of Hearing Science, 2024, v. 14, n. 3, p. 98
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- Article
Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program.
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- BioScience Trends, 2024, v. 18, n. 4, p. 303, doi. 10.5582/bst.2024.01178
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- Article
Growth factor and receptor malfunctions associated with human genetic deafness.
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- Clinical Genetics, 2020, v. 97, n. 1, p. 138, doi. 10.1111/cge.13641
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- Article
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK – implications for genetic testing.
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- Clinical Genetics, 2005, v. 68, n. 6, p. 506, doi. 10.1111/j.1399-0004.2005.00539.x
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- Article
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.
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- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1637
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- Article
Perception of Genetic Testing for Deafness and Factors Associated with Interest in Genetic Testing Among Deaf People in a Selected Population in Sub-Saharan Africa.
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- Journal of Genetic Counseling, 2015, v. 24, n. 6, p. 1037, doi. 10.1007/s10897-015-9843-7
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- Article
Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents' Beliefs About the Cause of Their Children's Deafness.
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- Journal of Genetic Counseling, 2013, v. 22, n. 4, p. 448, doi. 10.1007/s10897-012-9565-z
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- Article
Examining the Relationship Between Genetic Counselors’ Attitudes Toward Deaf People and the Genetic Counseling Session.
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- Journal of Genetic Counseling, 2010, v. 19, n. 2, p. 161, doi. 10.1007/s10897-009-9272-6
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- Article
Attitudes to Genetic Testing for Deafness: The Importance of Informed Choice.
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- Journal of Genetic Counseling, 2006, v. 15, n. 1, p. 51, doi. 10.1007/s10897-005-9003-6
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- Article
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.
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- 2019
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- Case Study
ETIOLOGIA GENÉTICA DA DEFICIÊNCIA AUDITIVA E TESTES DIAGNÓSTICOS: UMA CURTA REVISÃO.
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- UNINGÁ Review, 2013, v. 13, n. 1, p. 64
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- Article
Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects.
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- Archives of Medical Science, 2024, v. 20, n. 1, p. 113, doi. 10.5114/aoms/146024
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- Article
A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.
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- Neural Plasticity, 2018, p. 1, doi. 10.1155/2018/7272308
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- Article
Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.883617
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- Article
妊娠期遗传性耳聋易感基因携带者扩展型筛查模式研究.
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- Journal of International Obstetrics & Gynecology, 2023, v. 50, n. 5, p. 514, doi. 10.12280/gjfckx.20230397
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- Article
Genetic counseling for hearing loss.
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- Volta Review, 1997, v. 99, n. 5, p. 85
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- Article
Central auditory deficits associated with genetic forms of peripheral deafness.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 335, doi. 10.1007/s00439-021-02339-3
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- Article
CONSANGUINEOUS MARRIAGES AS A CAUSE OF CONGENITAL DEAFNESS (CASE OF UZBEKISTAN).
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- Journal of International Advanced Otology, 2015, v. 11, p. 74
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- Publication type:
- Article
GJB2 35delG and Mitochondrial A1555G Mutations and Etiology of Deafness at the Gelibolu School for the Deaf in Turkey.
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- Journal of International Advanced Otology, 2011, v. 7, n. 3, p. 361
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- Article
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.
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- Molecular Medicine, 2016, v. 22, p. 41, doi. 10.2119/molmed.2015.00226
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- Article
Molecular Analysis of Hair Cells in Sensorineural Hearing Loss.
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- Audiology & Neurotology, 2014, v. 19, n. 4, p. 267, doi. 10.1159/000363683
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- Article
Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China.
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- Inquiry (00469580), 2022, p. 1, doi. 10.1177/00469580211055571
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- Publication type:
- Article