• 5792 Citations
19972022
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Fingerprint Dive into the research topics where Mustafa Tekin is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 16 Similar Profiles
Mutation Medicine & Life Sciences
Deafness Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences
Genes Medicine & Life Sciences
Sensorineural Hearing Loss Medicine & Life Sciences
Exome Medicine & Life Sciences
Familial Mediterranean Fever Medicine & Life Sciences
Inner Ear Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 2010 2022

Rare Diseases
Minority Health
Population
Dominican Republic
Founder Effect
Deafness
Genes
Mutation
Hearing Loss
Turkey
Inner Ear
Exome
Consanguinity
Genetic Association Studies
DNA

Research Output 1997 2019

  • 5792 Citations
  • 207 Article
  • 4 Review article
  • 2 Comment/debate
  • 1 Chapter

Adams–Oliver syndrome caused by mutations of the EOGT gene

Schröder, K. C., Duman, D., Tekin, M., Schanze, D., Sukalo, M., Meester, J., Wuyts, W. & Zenker, M., Nov 1 2019, In : American Journal of Medical Genetics, Part A. 179, 11, p. 2246-2251 6 p.

Research output: Contribution to journalArticle

Ectodermal Dysplasia
Mutation
Genes
Extremities
Inheritance Patterns
1 Citation (Scopus)

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

Sineni, C. J., Yildirim-Baylan, M., Guo, S., Camarena, V., Wang, G., Tokgoz-Yilmaz, S., Duman, D., Bademci, G. & Tekin, M., Jan 1 2019, In : Human Genetics.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Hearing
Tight Junction Proteins
Tight Junctions
Deafness

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

Fan, K. C., Patel, N. A., Yannuzzi, N. A., Prakhunhungsit, S., Negron, C. I., Basora, E., Colin, A. A., Tekin, M. & Berrocal, A. M., Sep 1 2019, In : American Journal of Ophthalmology Case Reports. 15, 100486.

Research output: Contribution to journalArticle

Open Access
Hypotrichosis
Kartagener Syndrome
Macular Degeneration
Mutation
Vertebrate Photoreceptor Cells
3 Citations (Scopus)

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

on behalf of the ClinGen Hearing Loss Clinical Domain Working Group, Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Hearing Loss
Genome
Genes
Genetic Testing
Registries
1 Citation (Scopus)

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

on behalf of the ClinGen Hearing Loss Working Group, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Hearing Loss
Consensus
Guidelines
Population Control
Penetrance