Doç. Dr. ESRA ARSLAN ATEŞ

Yayın Ağı

Makaleler 60

1. A rare coexistence: tyrosinemia type III and Wolff-Parkinson-White syndrome.

Yılmaz-Gümüş E., Genç E., Kocaman D., Şaylan-Çevik B., Polat H., Arslan-Ateş E., et al.

Journal of pediatric endocrinology & metabolism : JPEM , 2026 (SCI-Expanded, Scopus)

2. Integrated Biotechnological Strategies for Planetary Health and Ecosystem Restoration

Yildirim D. T., Baki Yildirim A., Martin D., Beccari T., Vicente O., Radecka I., et al.

EUROBIOTECH JOURNAL , cilt.10, sa.2, ss.81-102, 2026 (ESCI, Scopus)

3. Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Manav Yiğit Z., Mengübaş Erbaş A., Türkyılmaz A., Tekin İ. M., Yılmaz Güleç E., Kayhan G., et al.

Balkan medical journal , cilt.43, sa.2, ss.92-102, 2026 (SCI-Expanded, Scopus, TRDizin)

4. Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.

Demir Ş., Geçkinli B. B., Kapazan Ç., Türkyılmaz A., Dizdar Yiğit D., Şahin Ö., et al.

European journal of pediatrics , cilt.184, sa.12, ss.748, 2025 (SCI-Expanded, Scopus)

5. Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.

Demir Ş., Ateş E., Sevik O., Sözer B., Köse T., ŞAHİN Ö., et al.

Clinical genetics , cilt.108, sa.5, ss.532-552, 2025 (SCI-Expanded, Scopus)

6. Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.

Alavanda C., Arslan Ateş E., Demir Ş., Polat H., Hanoğlu O., Arman A., et al.

American journal of medical genetics. Part A , cilt.197, 2025 (SCI-Expanded, Scopus)

7. Assessment of Genetic Variants Linked to Susceptibility to Mechanical Prosthetic Valve Thrombosis.

Kalkan S., Gürsoy M. O., Güner A., Gürsoy S., Kalçık M., Geçkinli B. B., et al.

The American journal of cardiology , cilt.234, ss.22-29, 2025 (SCI-Expanded, Scopus)

8. The Spondylocarpotarsal Synostosis Syndrome Case with Ventricular Septal Defect Caused by a Homozygous Frameshift Variation in FLNB

Dirimtekin E., Arslan Ateş E., Polat H., Almus E., Geçkinli B. B.

JOURNAL OF PEDIATRIC GENETICS , cilt.2024, sa.3, ss.1-6, 2024 (ESCI)

9. Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Vanbelleghem E., Van Damme T., Beyens A., Symoens S., Claes K., De Backer J., et al.

European journal of human genetics : EJHG , 2024 (SCI-Expanded, Scopus)

10. BRCA Mutations and MicroRNA Expression Patterns in the Peripheral Blood of Breast Cancer Patients

ALAVANDA C., Dirimtekin E., Mortoglou M., ARSLAN ATEŞ E., GÜNEY A. İ., Uysal-Onganer P.

ACS OMEGA , 2024 (SCI-Expanded, Scopus)

11. PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature

Demir S., SEVİK M. O., Ersoy A., GEÇKİNLİ B. B., ŞAHİN Ö., ARSLAN ATEŞ E.

OPHTHALMIC GENETICS , cilt.45, sa.2, ss.113-119, 2024 (SCI-Expanded, Scopus)

12. A novel variation in PTCH1 gene causing Gorlin-Goltz syndrome

Dirimtekin E., Arslan Ateş E., Polat H., Geckinli B. B.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.31, ss.564-565, 2023 (SCI-Expanded, Scopus)

13. Clinical and molecular characteristics of 147 patients with primary congenital hypothyroidism: A single-center experience

Abali Z. Y., Alavanda C., Eltan M., Arslan Ateş E., Helvacioglu D., Tosun B. G., et al.

HORMONE RESEARCH IN PAEDIATRICS , sa.96, ss.433, 2023 (SCI-Expanded, Scopus)

14. An Obese HNF1β Case Presenting with Diabetic Ketoacidosis

Kahveci A., Kaplan G., Arslan Ateş E., Geckinli B. B., Guran T., Turan S., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.96, ss.499, 2023 (SCI-Expanded, Scopus)

15. Clinical and molecular genetic characteristics of 98 patients with congenital hypopituitarism: A single-center experience

Abali Z. Y., Arslan Ateş E., Eltan M., Turan S., Bereket A., Guran T.

HORMONE RESEARCH IN PAEDIATRICS , cilt.96, ss.72-73, 2023 (SCI-Expanded, Scopus)

16. miR-34a-FOXP1 Loop in Ovarian Cancer

Dirimtekin E., Mortoglou M., Alavanda C., Benomar Yemlahi A., Arslan Ates E., Guney I., et al.

ACS Omega , cilt.8, sa.30, ss.27743-27750, 2023 (SCI-Expanded, Scopus)

17. Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome.

Alavanda C., Arslan Ateş E., Yavaş Abalı Z., Geçkinli B. B., Turan S., Arman A.

Clinical genetics , cilt.104, ss.127-132, 2023 (SCI-Expanded, Scopus)

18. Investigation of gene variations in inherited retinal dystrophies via next-generation sequencing

Demir S., Arslan Ateş E., Geckinli B. B., Arman A.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.31, ss.371-372, 2023 (SCI-Expanded, Scopus)

19. A Novel Cause of Male Infertility and Hypergonadotropic Hypogonadism: Inhibin-A Deficiency Due to Loss of Function Variations of INHA

Arslan Ateş E., Eltan M., Sahin B., Tosun B. G., Menevse T. S., Geckinli B. B., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.31, ss.352, 2023 (SCI-Expanded, Scopus)

20. A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)

Demir S., ALAVANDA C., Yesil G., ASLANGER A. D., Ates E.

MOLECULAR SYNDROMOLOGY , cilt.14, sa.2, ss.175-180, 2023 (SCI-Expanded, Scopus)

21. Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.

Geckinli B., Turkyilmaz A., Alavanda C., Sager G., Arslan Ates E., Soylemez M. A., et al.

Clinical dysmorphology , cilt.32, ss.55-61, 2023 (SCI-Expanded, Scopus)

22. Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Arslan Ateş E.

Journal of medical virology , cilt.95, sa.2, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

23. Germline Screening of Cancer-Related Genes in Turkish Ovarian Cancer Patients

Ateş E., Alavanda C., Geçkinli B., Güney A., Günel T.

EXPERIMED , cilt.12, ss.181-187, 2022 (Scopus, TRDizin) Sürdürülebilir Kalkınma

24. Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population

Duman N., Tuncel G., BİŞGİN A., TUĞ BOZDOĞAN S., Sag S. O., GÜL Ş., et al.

JOURNAL OF MEDICAL VIROLOGY , cilt.94, sa.11, ss.5225-5243, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

25. Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant

GEÇKİNLİ B. B., ALAVANDA C., Ates E., Yildirim O., ARMAN A.

CLINICAL DYSMORPHOLOGY , cilt.31, sa.3, ss.153-156, 2022 (SCI-Expanded, Scopus)

26. Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.

Arslan Ates E., Turkyilmaz A., Alavanda C., Yildirim O., Guney A. I.

Medeniyet medical journal , cilt.37, sa.2, ss.150-158, 2022 (ESCI, Scopus, TRDizin)

27. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

DÜNDAR M., Fahrioglu U., Yildiz S. H., Bakir-Gungor B., TEMEL Ş. G., Akin H., et al.

FUNCTIONAL & INTEGRATIVE GENOMICS , cilt.22, sa.3, ss.291-315, 2022 (SCI-Expanded, Scopus)

28. Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume

Ates E., Eltan M., ŞAHİN B., Tosun B. G., Menevse T. S., GEÇKİNLİ B. B., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY , cilt.186, sa.5, 2022 (SCI-Expanded, Scopus)

29. HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies

Sager G., TÜRKYILMAZ A., Ates E., Kutlubay B.

ACTA NEUROLOGICA BELGICA , cilt.122, sa.2, ss.391-399, 2022 (SCI-Expanded, Scopus)

30. Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

TÜRKYILMAZ A., ALAVANDA C., Ates E., GEÇKİNLİ B. B., Polat H., GÖKCÜ M., et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS , cilt.39, sa.3, ss.695-710, 2022 (SCI-Expanded, Scopus)

31. Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations

Ates E., ALAVANDA C., Demir S., Keklikkiran C., Attaallah W., Ozdogan O. C., et al.

TURKISH JOURNAL OF GASTROENTEROLOGY , cilt.33, sa.2, ss.81-87, 2022 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

32. A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient

Ates E., TÜRKYILMAZ A., Eltan S. B., BARIŞ S., GÜNEY A. İ.

MOLECULAR SYNDROMOLOGY , cilt.13, sa.1, ss.80-84, 2022 (SCI-Expanded, Scopus)

33. When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus? (vol 66, pg 32, 2022)

Ustay O., Arslan Ateş E., Apaydin T., Elbasan O., Pola H., Gunhan G., et al.

ARCHIVES OF ENDOCRINOLOGY AND METABOLISM , cilt.66, sa.1, ss.32-39, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

34. Secondary findings in 622 Turkish clinical exome sequencing data

Ates E., TÜRKYILMAZ A., Yildirim O., ALAVANDA C., Polat H., Demir S., et al.

JOURNAL OF HUMAN GENETICS , cilt.66, sa.11, ss.1113-1119, 2021 (SCI-Expanded, Scopus)

35. Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability

TÜRKYILMAZ A., GEÇKİNLİ B. B., Tekin E., Ates E., Yarali O., ÇEBİ A. H., et al.

BALKAN JOURNAL OF MEDICAL GENETICS , cilt.24, sa.2, ss.15-24, 2021 (SCI-Expanded, Scopus)

36. Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects

Kaygusuz S. B., Ates E., Vignola M. L., Volkan B., GEÇKİNLİ B. B., DEMİRCİOĞLU S., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , cilt.106, sa.10, 2021 (SCI-Expanded, Scopus)

37. 46,XY DSD due to biallelic DHX37 gene mutations

Eltan M., Helvacioglu D., Ates E., Abali Z. Y., DEMİRCİOĞLU S., BEREKET A., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.94, sa.SUPPL 1, ss.393-394, 2021 (SCI-Expanded, Scopus)

38. Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations

Ates E., ÜSTAY Ö., Polat H., Apaydin T., Elbasan O., Yildirim O., et al.

BALKAN MEDICAL JOURNAL , cilt.38, sa.5, ss.272-277, 2021 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

39. A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type

Kalaoglu E. E., TÜRKYILMAZ A., GEÇKİNLİ B. B., Ates E., MENTEŞ A. R., ARMAN A.

CLINICAL DYSMORPHOLOGY , cilt.30, sa.3, ss.150-153, 2021 (SCI-Expanded, Scopus)

40. Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

Ates E., TÜRKYILMAZ A., Delil K., ALAVANDA C., SÖYLEMEZ M. A., GEÇKİNLİ B. B., et al.

MOLECULAR SYNDROMOLOGY , cilt.12, sa.3, ss.179-185, 2021 (SCI-Expanded, Scopus)

41. Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature

TÜRKYILMAZ A., GEÇKİNLİ B. B., ALAVANDA C., Ates E., Buyukbayrak E. E., Eren S. F., et al.

GENETIC TESTING AND MOLECULAR BIOMARKERS , cilt.25, sa.6, ss.445-451, 2021 (SCI-Expanded, Scopus)

42. Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism

TÜRKYILMAZ A., Cayir A., Yarali O., Kurnaz E., Baykan E. K., Ates E., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.6, ss.771-780, 2021 (SCI-Expanded, Scopus)

43. Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant

TÜRKYILMAZ A., GEÇKİNLİ B. B., ALAVANDA C., Ates E., ARMAN A.

CLINICAL DYSMORPHOLOGY , cilt.30, sa.1, ss.10-16, 2021 (SCI-Expanded, Scopus)

44. Revealing novel splicing mutations in RAB3GAP1 gene causing Warburg Micro syndrome and a case including microduplication of 3q29

GEÇKİNLİ B. B., TÜRKYILMAZ A., ALAVANDA C., Taslidere H., Sager G., Ates E., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.SUPPL 1, ss.1012-1013, 2020 (SCI-Expanded, Scopus)

45. FGF3-Related Phenotypes: A Study of LAMM Syndrome and Otodental Dysplasia Patients with Two Novel Mutations in FGF3 Gene

TÜRKYILMAZ A., GEÇKİNLİ B. B., ALAVANDA C., Zengin G., Ates E., ARMAN A.

INTERNATIONAL JOURNAL OF HUMAN GENETICS , cilt.20, sa.4, ss.179-190, 2020 (SCI-Expanded)

46. CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of two novel mutations

Ates E., Onay H., Ertam I., Ataman E., Hazan F., Durmaz A., et al.

TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY , cilt.14, sa.4, ss.90-94, 2020 (ESCI, Scopus, TRDizin)

47. Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation

Eltan M., Yavas Abali Z., ARSLAN ATEŞ E., Kirkgoz T., Kaygusuz S. B., TÜRKYILMAZ A., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.92, sa.4, ss.262-268, 2020 (SCI-Expanded, Scopus)

48. Adrenocortical carcinoma in atypical Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2

Eltan M., ARSLAN ATEŞ E., Cerit K., Menevse T. S., Kaygusuz S. B., EKER N., et al.

PEDIATRIC BLOOD & CANCER , cilt.67, sa.1, 2020 (SCI-Expanded, Scopus)

49. A Case Of Syndromic Hypopituitarism

Kaygusuz S. B., Ates E., Kirkgoz T., Eltan M., Abali Z. Y., Helvacioglu D., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.91, ss.589, 2019 (SCI-Expanded, Scopus)

50. Cushing Syndrome due to an adrenacortical carcinoma in a baby with atypical Beckwith-Wiedemann Syndrome

Eltan M., Cerit K., Kaygusuz S. B., ARSLAN ATEŞ E., EKER N., Bagci P., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.91, ss.371, 2019 (SCI-Expanded, Scopus)

51. FGF3 gene mutations related to two syndromic Congenital deafness cases: Congenital deafness with inner ear agenesis (Michel aplasia), microtia, and microdontia and Otodental dysplasia

Turkyilmaz A., Geckinli B. B., Arslan Ateş E., Soylemez M. A., Guney A. I., Ata P., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.27, ss.893, 2019 (SCI-Expanded, Scopus)

52. Evaluation of BRCA1/BRCA2 test results for Turkish breast cancer families

Arslan Ateş E., Turkyilmaz A., Geckinli B. B., Ozgumus G. G., Soylemez M. A., Delil K., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.26, ss.966, 2018 (SCI-Expanded, Scopus)

53. A novel HNF1B mutation in a family with two MODY patients

Arslan Ateş E., Turkyilmaz A., Geckinli B. B., Soylemez M. A., Delil K., Ata P., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.26, ss.863, 2018 (SCI-Expanded, Scopus)

54. Evaluation of mismatch repair (MMR) protein expression with correlation of germline mutation analysis for Lynch syndrome screening in endometrial cancers in Turkish women; preliminary results

Seven I. E., Kombak F. E., Bozkurtlar E., Yalcinkaya C., Ates E., Guney A. I., et al.

VIRCHOWS ARCHIV , cilt.473, 2018 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

55. Molecular approaches to immunotherapy

Gümüşoğlu Acar E., Arslan Ateş E., Shikhaliyeva İ., Özer Ö., Günel T.

Journal of Molecular Biology and Genetics , sa.2, ss.69-85, 2017 (Hakemli Dergi)

56. Pregnancy-associated plasma protein A gene polymorphism in pregnant women with preeclampsia and intrauterine growth restriction

Ozkan S., SANHAL C. Y., Yeniel O., Ates E., Ergenoglu M., Binbir B., et al.

KAOHSIUNG JOURNAL OF MEDICAL SCIENCES , cilt.31, sa.10, ss.518-522, 2015 (SCI-Expanded, Scopus)

57. Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis

PALAMAR ONAY M., Onay H., Ertam I., Ates E., Dereli T., Ozkinay F., et al.

OPHTHALMIC GENETICS , cilt.36, sa.3, ss.229-233, 2015 (SCI-Expanded, Scopus)

58. Molecular Basis of beta-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation

Ozkinay F., Onay H., Karaca E., Arslan E., Erturk B., Solmaz A. E., et al.

HEMOGLOBIN , cilt.39, sa.4, ss.230-234, 2015 (SCI-Expanded, Scopus)

59. Relationship Between IL1 beta-511C > T and ILRN VNTR Polymorphisms and Keratoconus

PALAMAR ONAY M., Onay H., Ozdemir T. R., Arslan E., Egrilmez S., Ozkinay F., et al.

CORNEA , cilt.33, sa.2, ss.145-147, 2014 (SCI-Expanded, Scopus)

60. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

Pohl E., Aykut A., Beleggia F., Karaca E., Durmaz B., Keupp K., et al.

HUMAN GENETICS , cilt.132, sa.11, ss.1311-1320, 2013 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 29

1. Schuurs-Hoeijmakers Syndrome: Expanding the Phenotype of a Rare Disorder with a Recurrent PACS1 Variant

Jurat F., Arslan Ateş E.

15th Balkan congress of human genetics and 3rd Alpe Adria meeting of human genetics, Ljubljana, Slovenya, 9 - 11 Ekim 2025, ss.1, (Özet Bildiri)

2. Managing Neonatal Severe Primary Hyperparathyroidism: From Genotype to Surgical Cure

Jurat F., Arslan Ateş E., Firtina S.

15th Balkan congress of human genetics and 3rd Alpe Adria meeting of human genetics, Ljubljana, Slovenya, 9 - 11 Ekim 2025, ss.1, (Özet Bildiri)

3. Clinical and Genetic Characteristics of Hereditary Cancer Patients

Acır S., Ertürk B., Arslan Ateş E.

International Hereditary Cancers Congress, Antalya, Türkiye, 6 - 08 Şubat 2025, ss.1, (Tam Metin Bildiri)

4. A Case of Late-Diagnosed Neurofibromatosis Type I Presenting with Metastatic Breast Cancer: The Critical Role of Surveillance in Cancer-Prone Syndromes

Jurat F., Arslan Ateş E., Özen M.

International Hereditary Cancers Congress, Antalya, Türkiye, 6 - 08 Şubat 2025, ss.1, (Tam Metin Bildiri)

5. Ailevi Multipl Sklerozda Nadir Genetik Varyantların İncelenmesi: İmmün Yanıt ve Nörodejenerasyon İlişkisi

İzgi G. N., Fırtına S., Arslan Ateş E.

16. Ulusal Tıbbi Genetik Kongresi, Antalya, Türkiye, 4 - 08 Aralık 2024, ss.131, (Tam Metin Bildiri)

6. Kronik Hepatit B'de İnterferon ile Uyarılmış Genler ve İnterferon İmza Skoru: Potansiyel Prognostik Biyobelirteçler

Çınar Ç., Fırtına S., Arslan Ateş E.

16. Ulusal Tıbbi Genetik Kongresi, Antalya, Türkiye, 4 - 08 Aralık 2024, ss.189, (Tam Metin Bildiri)

7. Wiedemann-Steiner Sendromunda KMT2A Geninde Yeni Bir Mutasyon: Klinik ve Moleküler Bulgular

Acır S., Uyanık B., Arslan Ateş E.

16. Ulusal Tıbbi Genetik Kongresi, Antalya, Türkiye, 4 - 08 Aralık 2024, ss.201, (Özet Bildiri)

8. Philadelphia Kromozumu Negatif Kronik Myeloproliferatif Neoplazmlarda Mutasyon Profili

Kesriklioğlu B., Ertürk B., Arslan Ateş E.

16. Ulusal Tıbbi Genetik Kongresi, Antalya, Türkiye, 4 - 08 Aralık 2024, ss.168, (Özet Bildiri)

9. Chanarin Dorfman Sendromu Vaka Serisi

Kapazan Ç., Alavanda C., Türkyılmaz A., Arslan Ateş E., Geçkinli B. B.

16. Ulusal Tıbbi Genetik Kongresi, Antalya, Türkiye, 4 - 08 Aralık 2024, ss.177, (Özet Bildiri)

10. Kolorektal Kanser Tanısı Almış Olgularda Saptanan Germline Varyantların Değerlendirilmesi, Tek Merkez Deneyimi

Başer Z. M., Alavanda C., Polat H., Demir Ş., Dirimtekin E., Arslan Ateş E., et al.

16. Ulusal Tıbbi Genetik Kongresi, Antalya, Türkiye, 4 - 08 Aralık 2024, ss.179, (Özet Bildiri)

11. 19p13.2p13.12 Duplikasyonu Olan Ultra-Nadir Bir Olgu

Karaca Doğan B., Arslan Ateş E., Özen M.

16. Ulusal Tıbbi Genetik Kongresi, Antalya, Türkiye, 4 - 08 Aralık 2024, ss.84, (Tam Metin Bildiri)

12. Multigene Panel Testing in Primary Immunodeficiency Patients

Saka Güvenç M., Eren Akarcan S., Çinleti T., Arslan Ateş E.

European Biotechnology Congress 2024, İstanbul, Türkiye, 3 - 05 Ekim 2024, (Özet Bildiri)

13. Prognostik Significance of HMGA2 Gene Methylation in Ovarian Cancer

Arslan Ateş E., Günel T.

European Biotechnology Congress 2024, İstanbul, Türkiye, 3 - 05 Ekim 2024, (Özet Bildiri)

14. Geç Tanı Almış Loeys Dietz Sendromu Tip 4 Ailesinde Novel TGFB2 Varyasyonu

Karaca Doğan B., Fırtına S., Arslan Ateş E.

“Cerrahpaşa Tıp Fakültesi 3. İç Hastalıkları & 2. İç Hastalıkları Hemşireliği Kongresi, İstanbul, Türkiye, 7 - 08 Eylül 2024, ss.86-87, (Özet Bildiri)

15. GEÇ TANI ALMIŞ LOEYS DIETZ SENDROMU TIP 4 AILESINDE NOVEL TGFB2 VARYASYONU

Karaca B., Fırtına S., Arslan Ateş E.

Cerrahpaşa 3. İç Hastalıkları ve İç Hastalıkları Hemşireliği Kongresi, İstanbul, Türkiye, 7 - 08 Eylül 2024, ss.1, (Özet Bildiri)

16. A Case Report of Donnai Barrow Syndrome: First Gross Deletion Mutation in LRP2 Gene

Kesriklioğlu B., Karaca Doğan B., Arslan Ateş E., Firtina S.

14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023, Skopje, Makedonya, 5 - 07 Ekim 2023, ss.70, (Özet Bildiri)

17. Klinik ve Genetik Özellikleriyle Birt-Hogg-Dubé sendromu: Vaka serisi

Ceylan E. H., Arslan Ateş E., Münteha Başer Z., Alavanda C., Demir Ş., Dirimtekin E., et al.

2. Uluslararası Katılımlı Ulusal HematoOnkoGenetik Kongresi, Gazimagusa, Kıbrıs (Kktc), 4 - 07 Mayıs 2023, (Yayınlanmadı)

18. BRCA1/2 Mutasyonu Saptanan Hastalarda Risk Azaltıcı Cerrahi Kararı İçin Yapılan Multidisipliner Konsey Sonuçları: Tek Merkez Deneyimi

Alavanda C., Başer Z. M., Arslan Ateş E., Akdeniz Doğan Z. D., Uğurlu M. Ü., Yoldemir A. T., et al.

2. Uluslararası Katılımlı Ulusal HematoOnkoGenetik Kongresi, Gazimagusa, Kıbrıs (Kktc), 4 - 07 Mayıs 2023, (Yayınlanmadı)

19. Nadir Bir Makrotrombositopeni Nedeni Olan Sitosterolemi Tanılı İki Olgu: ABCG8 geninde yeni varyasyon

İzgi G. N., Fırtına S., Arslan Ateş E.

2. Uluslararası Katılımlı Ulusal HematoOnkoGenetik Kongresi”, Gazimagusa, Kıbrıs (Kktc), 4 - 07 Mayıs 2023, (Yayınlanmadı)

20. A Useful Tool for Distinguishing Gene/Pseudogene Variants Detected via NGS: Haplotype Analysis

ARSLAN ATEŞ E., GÜNEY A. İ., GÜNEL T.

1 st INTERNATIONAL MULTIDISCIPLINARY CANCER RESEARCH CONGRESS, Diyarbakır, Türkiye, 18 Eylül 2019, (Özet Bildiri)

21. FGF3 gene mutations related to two syndromic Congenital deafness cases: Congenital deafness with inner ear agenesis (Michel aplasia), microtia, and microdontia and Otodental dysplasia

Turkyilmaz A., GEÇKİNLİ B. B., Ates E., SÖYLEMEZ M. A., GÜNEY A. İ., ATA P., et al.

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.893, (Özet Bildiri)

22. A novel intronic ATM gene mutation affecting splicing in a patient with Ataxia-Telangiectasia

Ates E., Turkyilmaz A., SÖYLEMEZ M. A., GEÇKİNLİ B. B., ATA P., ARMAN A., et al.

23. Evaluation of BRCA1 p.Tyr179Cys, p.Phe486Leu and p.Asn550His mutations in Turkish Breast Cancer Patients

ARSLAN ATEŞ E.

13th Balkan Congress of Human Genetics, 17 Nisan 2019, cilt.22, (Özet Bildiri) Sürdürülebilir Kalkınma

24. A novel HNF1B mutation in a family with two MODY patients

Ates E., Turkyilmaz A., GEÇKİNLİ B. B., SÖYLEMEZ M. A., Delil K., ATA P., et al.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.863, (Özet Bildiri)

25. Evaluation of BRCA1/BRCA2 test results for Turkish breast cancer families

Ates E., Turkyilmaz A., GEÇKİNLİ B. B., Ozgumus G. G., SÖYLEMEZ M. A., Delil K., et al.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.966, (Özet Bildiri) Sürdürülebilir Kalkınma