Assoc. Prof. DUYGU DUMAN

Publication Network

Articles 53

1. **Two Siblings with LRPPRC Mutation: Mitochondrial Complex IV Deficiency: Case Report**

Akyüzlüer Güneş M. S., Duman D., Şen E. K., Yıldırım M., Özsu E., Erdeve Ö., et al.

MOLECULAR SYNDROMOLOGY , vol.17, no.3, pp.288-295, 2026 (SCI-Expanded, Scopus) Sustainable Development

2. CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosis

Isik E., Zafeer M. F., Bademci G., Ramzan M., Turkut Tan T., Peart L., et al.

Journal of Medical Genetics , vol.63, no.6, pp.376-385, 2026 (SCI-Expanded, Scopus)

3. **Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature**

Sürücü Kara İ., Duman D., Bademci G., Kuloglu Z., Kaynak Sahap S., Tekin M., et al.

MOLECULAR SYNDROMOLOGY , vol.16, no.6, pp.559-567, 2025 (SCI-Expanded, Scopus) Sustainable Development

4. Carboxypeptidase D deficiency causes hearing loss amenable to treatment.

Ramzan M., Ortiz-Vega N., Zafeer M. F., Lobato A. G., Atik T., Abad C., et al.

The Journal of clinical investigation , vol.135, no.23, 2025 (SCI-Expanded, Scopus)

5. Human organoids for rapid validation of gene variants linked to cochlear malformations

Zafeer M. F., Ramzan M., DUMAN D., MUTLU A., Seyhan S., Kalcioglu M. T., et al.

HUMAN GENETICS , vol.144, no.4, pp.375-389, 2025 (SCI-Expanded, Scopus) Sustainable Development

6. Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies

Yilmaz U., Yildirim Baylan M., DUMAN D., Sineni C., Bademci G., Sizer B., et al.

Ear, Nose and Throat Journal , vol.103, no.3_suppl, 2024 (SCI-Expanded, Scopus)

7. Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2

Ramzan M., Zafeer M. F., Abad C., Guo S., Owrang D., Alper O., et al.

European Journal of Human Genetics , vol.32, no.6, pp.639-646, 2024 (SCI-Expanded, Scopus)

8. **Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss**

DUMAN D., Ramzan M., Subasioglu A., MUTLU A., Peart L., Seyhan S., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.194, no.6, 2024 (SCI-Expanded, Scopus)

9. Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

Ramzan M., Bozan N., Seyhan S., Zafeer M. F., Ayral A., Duman D., et al.

SCIENTIFIC REPORTS , vol.13, no.1, 2023 (SCI-Expanded, Scopus)

10. Dispersed DNA variants underlie hearing loss in South Florida's minority population

Peart L., Gonzalez J., Morel Swols D., Duman D., Saridogan T., Ramzan M., et al.

HUMAN GENOMICS , vol.17, no.1, 2023 (SCI-Expanded, Scopus)

11. Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss

Ramzan M., Duman D., Hendricks L. C. P., Guo S., Mutlu A., Kalcıoğlu M. T., et al.

JOURNAL OF HUMAN GENETICS , vol.68, no.10, pp.657-669, 2023 (SCI-Expanded, Scopus)

12. Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss

Vona B., Schwartzbaum D. A., Rodriguez A. A., Lewis S. S., Toosi M. B., Radhakrishnan P., et al.

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY , vol.36, no.9, pp.1606-1611, 2022 (SCI-Expanded, Scopus)

13. Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

Bademci G., Lachgar-Ruiz M., Deokar M., Zafeer M. F., Abad C., Baylan M. Y., et al.

Proceedings of the National Academy of Sciences of the United States of America , vol.119, no.26, 2022 (SCI-Expanded, Scopus)

14. Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial Diseases

Gencer Öncül E. B., Duman D., Eminoğlu F. T., Aktuna S., Duman M. T.

BALKAN MEDICAL JOURNAL , vol.39, no.2, pp.96-106, 2022 (SCI-Expanded, Scopus)

15. Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

Bademci G., Abad C., Cengiz F. B., Seyhan S., İNCESULU Ş. A., Guo S., et al.

JOURNAL OF CLINICAL INVESTIGATION , vol.130, no.8, pp.4213-4217, 2020 (SCI-Expanded, Scopus)

16. Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

Diaz-Horta O., Bademci G., TOKGÖZ YILMAZ S., Guo S., Zafeer F., Sineni C. J., et al.

Clinical Genetics , vol.96, no.6, pp.575-578, 2019 (SCI-Expanded, Scopus)

17. Adams–Oliver syndrome caused by mutations of the EOGT gene

Schröder K. C., DUMAN D., Tekin M., Schanze D., Sukalo M., Meester J., et al.

American Journal of Medical Genetics, Part A , vol.179, no.11, pp.2246-2251, 2019 (SCI-Expanded, Scopus)

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

Sineni C. J., Yildirim-Baylan M., Guo S., Camarena V., Wang G., TOKGÖZ YILMAZ S., et al.

Human Genetics , vol.138, no.10, pp.1071-1075, 2019 (SCI-Expanded, Scopus)

19. Genetic causes of inner ear anomalies: A review from the Turkish study group for inner ear anomalies

OCAK E., DUMAN D., Tekin M.

Balkan Medical Journal , vol.36, no.4, pp.206-211, 2019 (SCI-Expanded, Scopus, TRDizin) Sustainable Development

20. FOXF2 is required for cochlear development in humans and mice

Bademci G., Abad C., İNCESULU Ş. A., Elian F., Reyahi A., Diaz-Horta O., et al.

HUMAN MOLECULAR GENETICS , vol.28, no.8, pp.1286-1297, 2019 (SCI-Expanded, Scopus)

21. Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

Li C., Bademci G., Subasioglu A., Diaz-Horta O., Zhu Y., Liu J., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , vol.116, no.4, pp.1347-1352, 2019 (SCI-Expanded, Scopus)

22. 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., et al.

PLOS ONE , vol.13, no.11, 2018 (SCI-Expanded, Scopus)

23. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Meester J. A. N., Sukalo M., Schroeder K. C., Schanze D., Baynam G., Borck G., et al.

HUMAN MUTATION , vol.39, no.9, pp.1246-1261, 2018 (SCI-Expanded, Scopus)

24. MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Bademci G., Abad C., İNCESULU Ş. A., Rad A., Alper O., Kolb S. M., et al.

HUMAN GENETICS , vol.137, no.6-7, pp.479-486, 2018 (SCI-Expanded, Scopus)

25. Variants in CIB2 cause DFNB48 and not USH1J

Booth K. T., Kahrizi K., Babanejad M., Daghagh H., Bademci G., Arzhangi S., et al.

CLINICAL GENETICS , vol.93, no.4, pp.812-821, 2018 (SCI-Expanded, Scopus)

26. Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

Cengiz F. B., Yilmazer R., Olgun L., SENNAROĞLU L., KİRAZLI T., Alper H., et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY , vol.101, pp.167-171, 2017 (SCI-Expanded, Scopus)

27. Research of genetic bases of hereditary non-syndromic hearing loss

Subasioglu A., DUMAN D., Sirmaci A., Bademci G., Carkit F., SOMDAŞ M. A., et al.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS , vol.52, no.3, pp.122-132, 2017 (ESCI, Scopus, TRDizin)

28. Novel EYA1 variants causing Branchio-oto-renal syndrome

Klingbeil K. D., Greenland C. M., ArsIan S., Paneque A. L., GÜRKAN H., Ulusal S. D., et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY , vol.98, pp.59-63, 2017 (SCI-Expanded, Scopus)

29. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Yan D., Tekin D., Bademci G., Foster J., Cengiz F. B., Kannan-Sundhari A., et al.

HUMAN GENETICS , vol.135, no.8, pp.953-961, 2016 (SCI-Expanded, Scopus)

30. Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

Bademci G., Cengiz F. B., Foster J., Duman D., Sennaroglu L., Diaz-Horta O., et al.

SCIENTIFIC REPORTS , vol.6, 2016 (SCI-Expanded, Scopus)

31. ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Diaz-Horta O., Abad C., SENNAROĞLU L., Foster J., DeSmidt A., Bademci G., et al.

Proceedings of the National Academy of Sciences of the United States of America , vol.113, no.21, pp.5993-5998, 2016 (SCI-Expanded, Scopus)

32. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Bademci G., Foster J., Mahdieh N., Bonyadi M., DUMAN D., Cengiz F. B., et al.

Genetics in Medicine , vol.18, no.4, pp.364-371, 2016 (SCI-Expanded, Scopus)

33. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

Chakchouk I., Grati M., Bademci G., Bensaid M., Ma Q., Chakroun A., et al.

MOLECULAR GENETICS AND GENOMICS , vol.290, no.4, pp.1327-1334, 2015 (SCI-Expanded, Scopus)

34. HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction

BULUM AKBULUT B., ÖZÇAKAR Z. B., DUMAN D., Cengiz F. B., Kavaz A., BURGU B., et al.

NEPHRON , vol.130, no.1, pp.54-58, 2015 (SCI-Expanded, Scopus, TRDizin)

35. Analysis Of Hpse2 Gene Mutations In Children With Non-neurogenic Neurogenic Bladder And Urofacial (ochoa) Syndrome

Bulum B., ÖZÇAKAR Z. B., DUMAN D., Cengiz F. B., BURGU B., Baskin E., et al.

PEDIATRIC NEPHROLOGY , vol.29, no.9, pp.1698, 2014 (SCI-Expanded, Scopus)

36. Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss

Bademci G., Diaz-Horta O., Guo S., DUMAN D., Van Booven D., Foster J., et al.

GENETIC TESTING AND MOLECULAR BIOMARKERS , vol.18, no.9, pp.658-661, 2014 (SCI-Expanded, Scopus)

37. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

Diaz-Horta O., Subasioglu-Uzak A., Grati M., Desmidt A., Foster J., Cao L., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , vol.111, no.27, pp.9864-9868, 2014 (SCI-Expanded, Scopus)

38. Evidence for genotype-phenotype correlation for OTOF mutations

Yildirim-Baylan M., Bademci G., DUMAN D., Ozturkmen-Akay H., TOKGÖZ YILMAZ S., Tekin M.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY , vol.78, no.6, pp.950-953, 2014 (SCI-Expanded, Scopus)

39. BRANCHIO-OCULO-FACIAL SYNDROME IN A NEWBORN CAUSED BY A NOVEL TFAP2A MUTATION

Gunes N., Cengiz F. B., DUMAN D., Dervisoglu S., Tekin M., Tuysuz B.

GENETIC COUNSELING , vol.25, no.1, pp.41-47, 2014 (SCI-Expanded, Scopus)

40. High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

BULUM AKBULUT B., ÖZÇAKAR Z. B., ÜSTÜNER E., DÜŞÜNCELİ ATMAN E., Kavaz A., DUMAN D., et al.

PEDIATRIC NEPHROLOGY , vol.28, no.11, pp.2143-2147, 2013 (SCI-Expanded, Scopus)

41. SLITRK6 mutations cause myopia and deafness in humans and mice

Tekin M., Chioza B. A., Matsumoto Y., Diaz-Horta O., Cross H. E., DUMAN D., et al.

JOURNAL OF CLINICAL INVESTIGATION , vol.123, no.5, pp.2094-2102, 2013 (SCI-Expanded, Scopus)

42. Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Yariz K. O., Duman D., Seco C. Z., Dallman J., Huang M., Peters T. A., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , vol.91, no.5, pp.872-882, 2012 (SCI-Expanded, Scopus)

43. MASP-1 is crucial for lectin pathway activation in human serum, while neither MASP-1 nor MASP-3 are required for alternative pathway function

Degn S. E., Jensen L., Hansen A. G., DUMAN D., Tekin M., Jensenius J. C., et al.

IMMUNOBIOLOGY , vol.217, no.11, pp.1218-1219, 2012 (SCI-Expanded, Scopus)

44. Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Diaz-Horta O., DUMAN D., Foster J., Sirmaci A., Gonzalez M., Mahdieh N., et al.

PLOS ONE , vol.7, no.11, 2012 (SCI-Expanded, Scopus)

45. A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss

Yariz K. O., Walsh T., Akay H., Duman D., Akkaynak A. C., King M., et al.

CLINICAL GENETICS , vol.81, no.3, pp.289-293, 2012 (SCI-Expanded, Scopus)

46. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

Erken H., Yariz K. O., Duman D., TULUNAY KAYA C., Sayin T., Heper A., et al.

BRITISH JOURNAL OF DERMATOLOGY , vol.165, no.4, pp.917-921, 2011 (SCI-Expanded, Scopus)

47. A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia

Sirmaci A., Oeztuerkmen-Akay H., Erbek S., İNCESULU Ş. A., Duman D., Tasir-Yilmaz S., et al.

CLINICAL GENETICS , vol.75, no.6, pp.562-567, 2009 (SCI-Expanded, Scopus)

48. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

Tekin M., Akay H. O., Fitoz S., Birnbaum S., Cengiz F. B., Sennaroglu L., et al.

CLINICAL GENETICS , vol.73, no.6, pp.554-565, 2008 (SCI-Expanded, Scopus)

49. Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome

Erur A. T., Ocal G., BERBEROĞLU M., Tekin M., KILIÇ B. G., AYCAN Z., et al.

PEDIATRICS INTERNATIONAL , vol.50, no.2, pp.172-174, 2008 (SCI-Expanded, Scopus)

50. The c.IVS1+1G > A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population

Sirmaci A., Akcayoz-Duman D., Tekin M.

JOURNAL OF GENETICS , vol.85, no.3, pp.213-216, 2006 (SCI-Expanded, Scopus)

51. A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

Tekin M., Akcayoz D., Incesulu A.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.138A, no.1, pp.6-10, 2005 (SCI-Expanded, Scopus)

52. 657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population

Tekin M., Akcayoz D., Ucar C., Gulen H., Akar N.

HUMAN BIOLOGY , vol.77, no.3, pp.393-397, 2005 (SCI-Expanded, Scopus)

53. 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., Akcayoz D., ÇOMAK E., Bogoclu G., Duman T., Fitoz S., et al.

CLINICAL GENETICS , vol.64, no.4, pp.371-374, 2003 (SCI-Expanded, Scopus)

Papers Presented at Peer-Reviewed Scientific Conferences 28

1. DETERMINATION OF CUT-OFF VALUES USING THE MOM APPROACH IN LYSOSOMAL STOR-AGE DISEASES IN TÜRKİYE: FINDINGS FROM A NEWBORN FREQUENCY STUDY

EMİNOĞLU F. T., TÜRKEŞ G. F., KOÇ YEKEDÜZ M., OKULU E., ERDEVE Ö., ATASAY F. B., et al.

INTERNATIONAL LABORATORY MEDICINE SUMMIT ERZURUM 2025, Erzurum, Turkey, 28 October 2025, vol.50, pp.136-146, (Full Text)

2. Beyond Single Diagnoses: High Diagnostic Yield And Dual Findings In Consanguineous Pediatric Neurodevelopmental Disorders

KOÇ YEKEDÜZ M., EKER E., MUTLU H., DUMAN D., ÖZERDEM B., ALTINTAŞ M., et al.

17th Annual ICORD Meeting, İzmir, Turkey, 14 November 2025, (Full Text)

3. EP15.110. Comprehensive genomic analysis reveals dual diagnoses and large copy number variations in pediatric patients with undiagnosed rare diseases

MUTLU H., KÖSE E., KOÇ YEKEDÜZ M., EKER E., DUMAN D., EMİNOĞLU F. T.

ESHG 2025, Milan, Italy, 24 - 27 May 2025, (Summary Text)

4. #2138 In silico elucidation of a rare missense variant in the calcium-binding domain of RET associated with familial variable penetrating Hirschsprung disease

Çakınberk E. N., Shukur A. A., Acar E., DEMİREL E., DUMAN D., MUTLU H.

ESHG 2025, 24 May 2025, (Summary Text)

5. Human Inner Ear Organoids Validate Coding and Enhancer Variants in Cochlear Malformations

Duman D.

ASHG 2024 Annual Meeting, Colorado, United States Of America, 5 - 09 November 2024, pp.1694-1695, (Summary Text)

6. Genetics of Hearing Loss : How close we are to GeneUnderstanding.

DUMAN D.

2nd Otocon 2024, Islamabad, Pakistan, 17 - 19 May 2024

7. KATARAKT, GELİŞİMSEL GECİKME, KARACİĞER HASTALIĞI OLAN DİSKERATOZİS KONJENİTA TANILI İKİ KARDEŞ OLGU

SÜRÜCÜ KARA İ., Mehdiili A., DUMAN D., EMİNOĞLU F. T.

Ankara pediatri kongresi, Ankara, Turkey, 09 November 2023, pp.165, (Summary Text)

8. Molecular diagnosis of lethal multiple pterygium syndrome in a fetus presenting with fetal akinesia deformation sequence

ÇETİN T., MUTLU H., DUMAN D., DUMAN M. T.

8. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Turkey, 21 September 2023, (Summary Text)

9. Genome sequencing identifies coding and non-coding variants in hereditary deafness missed by exome sequencing

Ramzan M., Duman D., Hendricks L. C. P., Zafeer M. F., Bademci G., Tekin M.

American Society of Human Genetics 2022 Annual Meeting , California, United States Of America, 25 - 29 October 2022, pp.982, (Summary Text)

10. Biallelic variants in KITLG cause Waardenburg syndrome type 2, albinism-deafness syndrome and oculocutaneous albinism

Girisha K., Vona B., Schwartzbaum D., Rodriguez A. A., Lewis S. S., Toosi M. B., et al.

European Human Genetics Conference , Vienna, Austria, 11 - 14 June 2022, pp.369, (Summary Text)

11. Expanding KITLG to Include Autosomal Recessive Inheritance, Oculocutaneous Albinism and Waardenburg/Albinism-Deafness Syndromes

Vona B., A. Schwartzbaum D., A. Rodriguez A., Lewis S. S., Toosi M. B., Radhakrishnan P., et al.

12th Molecular Biology of Hearing and Deafness Conference, Iowa, United States Of America, 24 - 27 May 2022, pp.97, (Summary Text)

12. Characterization of MINAR2 as a Novel Autosomal Recessive Deafness Gene

Bademci G., Lachgar-Ruiz ., Deokar M., Zafeer M. F., Abad ., Yildirim Baylan ., et al.

12th Molecular Biology of Hearing and Deafness Conference, Iowa, United States Of America, 24 - 27 May 2022, pp.18, (Summary Text)

13. Leigh Sendromu (LS) Ön Tanılı Bir Hastada Olası Genetik Etmenlerin Araştırılması

gencer oncül e. b., DUMAN D., EMİNOĞLU F. T., AKTUNA S., DUMAN M. T.

VI. Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Turkey, 27 - 30 October 2019

14. işitme kaybının genetiği

DUMAN D.

V. Uluslararası Katılımlı Odyoloji Kongresi, Ankara, Turkey, 11 - 12 May 2019

15. Whole Mitochondrial Genome Screening in Children with Suspected Mitochondrial Disease

GENCER ÖNCÜL E. B., DUMAN D., EMİNOĞLU F. T., AKTUNA S., DUMAN M. T.

Uluslararası Metabolik Hastalıklar ve Beslenme Kongresi, 10 - 14 April 2019, (Full Text)

16. A founder mutation uncovers MPZL2 (DFNB111) as a novel autosomal recessive non-syndromic moderate hearing loss gene

barbara v., Bademci G., Abad C., İNCESULU Ş. A., rad a., ALPER Ö., et al.

German Society of Human Genetics Meeting, 6 - 08 April 2019

17. Using Whole Genome Sequencing to Identify Novel Variants in Branchio-Oto-Renal Syndrome

Quynh P., hermida a., amat d., gurkan h., DEMİR S., SEYHAN S., et al.

ACMG Annual Clinical Genetics Meeting, 2 - 06 April 2019

18. İŞİTME KAYBI GENETİĞİ

DUMAN D.

Ankara Tıp Kulak Burun Boğaz Kliniği 4. Alumni Toplantısı, Turkey, 14 - 15 December 2018

19. Association of TOMM40 (Rs1160985 and Rs157581) Polymorphisms with Alzehimer Disease

RAJAB M. F., gencer oncül e. b., TAŞTAN H., DUMAN D., DİRİK E. B., DUMAN M. T.

Uluslararası katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Turkey, 7 - 11 November 2018, (Summary Text)

20. Mitokondriyal kalıtım gösteren tanı konulamamış nadir nöroloji, psikiyatri, metabolizma hastalarında mitokondriyal DNA (mtDNA)’nın taranması

gencer oncül e. b., DUMAN D., EMİNOĞLU F. T., ERDOĞAN S., AKTUNA S., DUMAN B., et al.

Uluslararası katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Turkey, 7 - 11 November 2018, (Summary Text)

21. Three novel hearing loss genes reveal previously unrecognized roles of their protein products in the perception of sound.

Bademci G., li c., Diaz-Horta O., abad c., vona b., Maroofian r., et al.

American Society of Human Genetics 2018 Annual Meeting, San Diego, 16 - 20 October 2018, (Summary Text)

27. BCKD kinase deficiency Expanding the disease phenotypewith sensorineural hearing loss and transient acrodermatitisenteropathica like dermatitis

HİŞMİ B., ÖZTÜRKMEN AKAY H., BADEMCİ G., DUMAN D., BACANLI A., HİŞMİ A., et al.

SSIEM 2014 Annual Symposium, Innsbruck, Austria, 2 - 05 September 2014, vol.37, pp.174

28. Frequency of renal anomalies in asymptomatic relatives of the patients with CAKUT

BULUM ÖZTÜRK B., KAVAZ A., ÖZÇAKAR Z. B., ÜSTÜNER E., DÜŞÜNCELİ E., DUMAN D., et al.

45th Annual Pediatric Nephrology Meeting, Krakow, Poland, 6 - 08 September 2012, vol.27, pp.1650

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