• 6255 Citations
19972020

Research output per year

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Research Output

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Letter
2015

A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

Yariz, K. O., Sakalar, Y. B., Jin, X., Hertz, J., Sener, E. F., Akay, H., Özbek, M. N., Farooq, A., Goldberg, J. & Tekin, M., Feb 1 2015, In : Clinical Genetics. 87, 2, p. 192-195 4 p.

Research output: Contribution to journalLetter

9 Scopus citations

Comprehensive genetic testing can save lives in hereditary hearing loss

Tekin, D., Tutar, E., Ozturkmen Akay, H., Blanton, S., Foster, J. & Tekin, M., Feb 1 2015, In : Clinical Genetics. 87, 2, p. 190-191 2 p.

Research output: Contribution to journalLetter

8 Scopus citations
2014

Familial intellectual disability in an Iranian family with a novel truncating mutation in CEP290

Ghaffari, S. R., Rafati, M., Ghaffari, G., Morra, M. & Tekin, M., Jan 1 2014, In : Clinical Genetics. 86, 4, p. 387-390 4 p.

Research output: Contribution to journalLetter

3 Scopus citations
2011

Arnavut popülasyonunda FV G1691A ve PT G20210A mutasyonu sıklıǧı

Translated title of the contribution: The frequency of FV G1691A and PT G20210A mutations in an albanian populationAvni Atay, A., Tekin, M., Allajalebeu, K., Eǧin, Y. & Akar, N., 2011, In : Turkish Journal of Hematology. 28, 3, p. 241-242 2 p.

Research output: Contribution to journalLetter

2 Scopus citations
2005

Alterations in the GJB3 and CLDN14 genes in families with nonsyndromic sensorineural hearing loss [2]

Arican, S. T., Incesulu, A., Inceoglu, B. & Tekin, M., Oct 31 2005, In : Genetic Counseling. 16, 3, p. 309-311 3 p.

Research output: Contribution to journalLetter

1 Scopus citations

Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: An unusual association [2]

Alptekin, N., Ozturk, E. A., Gok, H., Yalcin, P. & Tekin, M., Dec 1 2005, In : Genetic Counseling. 16, 4, p. 421-423 3 p.

Research output: Contribution to journalLetter

1 Scopus citations

Letter to the editor [2] (multiple letters)

Toal, S. C., Lokhandwala, Y., Tutar, E. & Tekin, M., Feb 2005, In : PACE - Pacing and Clinical Electrophysiology. 28, 2, 1 p.

Research output: Contribution to journalLetter

2003

A note on mutation analysis in familial Mediterranean fever [1]

Akar, N., Akar, E., Özel, D., Tekin, M., Ekim, M. & Yalçinkaya, F., Feb 1 2003, In : Pediatric Nephrology. 18, 2, p. 196-197 2 p.

Research output: Contribution to journalLetter

6 Scopus citations

Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey

Tekin, M., Akçayöz, D., Çomak, E., Boǧoçlu, G., Duman, T., Fitoz, S., Ilhan, I. & Akar, N., Oct 1 2003, In : Clinical Genetics. 64, 4, p. 371-374 4 p.

Research output: Contribution to journalLetter

12 Scopus citations
1999

Further family with possible autosomal recessive inheritance of Adams- Oliver syndrome [3]

Tekin, M., Bodurtha, J., Ciftci, E. & Arsan, S., Aug 25 1999, In : American journal of medical genetics. 86, 1, p. 90-91 2 p.

Research output: Contribution to journalLetter

24 Scopus citations