• 5229 Citations
19972021
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  • 14 Similar Profiles
Mutation Medicine & Life Sciences
Deafness Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences
Genes Medicine & Life Sciences
Exome Medicine & Life Sciences
Sensorineural Hearing Loss Medicine & Life Sciences
Familial Mediterranean Fever Medicine & Life Sciences
Inner Ear Medicine & Life Sciences

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Projects 2008 2021

Genetic Studies of Inner Ear Anomalies

Tekin, M.

National Institutes of Health

3/1/132/28/19

Project: Research projectResearch Project

Inner Ear
Exome
Consanguinity
Genetic Association Studies
DNA
Deafness
Genes
Mutation
Hearing Loss
Turkey

Research Output 1997 2018

  • 5229 Citations
  • 190 Article
  • 4 Review article
  • 1 Chapter
1 Citations

A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia

Lord, S. V., Jimenez, J. E., Kroeger, Z. A., Patrick, C. S., Sanchez-Pena, I., Ziga, E., Bademci, G. & Tekin, M., Jan 1 2018, In : Clinical Dysmorphology. 27, 1, p. 9-11 3 p.

Research output: Contribution to journalArticle

Thrombocytopenia
African Americans
Pronation
Supination
Transplants

A novel variant in SYNE4 confirms its causative role in sensorineural hearing loss

Masterson, J., Yıldırım, B., Gökkaya, E., Yılmaz, S. T. & Tekin, M., Jan 1 2018, In : Balkan Medical Journal. 35, 2, p. 196-198 3 p.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Hearing Loss
High-Frequency Hearing Loss
DNA
Genes

A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing

Lopategui, D. M., Griswold, A., Arora, H., Clavijo, R. I., Tekin, M. & Ramasamy, R., Jan 1 2018, In : Andrology. 6, 1, p. 53-57 5 p.

Research output: Contribution to journalArticle

Kallmann Syndrome
Exome
Siblings
Delayed Puberty
Olfaction Disorders

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

McSherry, M., Masih, K. E., Elcioglu, N. H., Celik, P., Balci, O., Cengiz, F. B., Nunez, D., Sineni, C. J., Seyhan, S., Kocaoglu, D., Guo, S., Duman, D., Bademci, G. & Tekin, M., Nov 1 2018, In : PloS one. 13, 11, e0208324.

Research output: Contribution to journalArticle

Genetic Heterogeneity
Genetic Association Studies
Intellectual Disability
Genes
genes

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Su, M., Benke, P. J., Bademci, G., Cengiz, F. B., Ouyang, X., Peng, J., Casas, C. E., Tekin, M. & Fan, Y-S., Aug 1 2018, In : Molecular Cytogenetics. 11, 1, 43.

Research output: Contribution to journalArticle

Chromosomes
Microarrays
Phenotype
Uniparental Disomy
Derivatives