Yayınlar & Eserler

Yayın Ağı
Makaleler 34
Tümü (34)
SCI-E, SSCI, AHCI (33)
SCI-E, SSCI, AHCI, ESCI (33)
Scopus (34)
TRDizin (2)

1. Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases

Genç A., Sarıkaya E., CEYLAN A. C., Çavdarlı B., ÇETİN İ. İ., Erdoğan İ., et al.
Clinical Genetics , cilt.110, sa.3, ss.299-314, 2026 (SCI-Expanded, Scopus)

2. Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion

Çetinkaya D., Çavdarlı B., Kırat E., KILIÇ E.
American Journal of Medical Genetics, Part A , cilt.200, sa.6, ss.1347-1352, 2026 (SCI-Expanded, Scopus)

3. Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the “Jumping SHOX” phenomenon

Doğan Arı A. B., ARI H., Çakar E. Ş., Solmaz T. M., Taşdelen E., Büyükyılmaz G., et al.
European Journal of Pediatrics , cilt.185, sa.6, 2026 (SCI-Expanded, Scopus)

4. A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome

Çetinkaya D., Büyükyılmaz G., KILIÇ E.
JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.18, ss.20-24, 2026 (SCI-Expanded, Scopus, TRDizin)

5. CRB2-Related Syndrome in 2 New Patients: Three Novel Variants

Doğan Arı A. B., Türkyılmaz A., Çiftçi Pınar N., Turhan U., Keçeli A. M., BAYRAKCİ U. S., et al.
Molecular Syndromology , cilt.17, sa.2, ss.174-178, 2026 (SCI-Expanded, Scopus)

6. CHOPS Syndrome: A Rare Malformation Syndrome with de novo AFF4 Gene Variant

Gokdemir I., Cetin S. K., KILIÇ E., Buyukyilmaz G., Deligozoglu D., Gurbuz F., et al.
Molecular Syndromology , ss.1-8, 2026 (SCI-Expanded, Scopus)

7. PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular Spectrum in a Cohort of 11 Patients PTCH1-assoziiertes Gorlin-Syndrom: Erweiterung des klinischen und molekularen Spektrums in einer Kohorte von 11 Patienten

Doǧan Arl A. B., Çavdarll B., Güleç Ceylan G., Çakmakcl S., KILIÇ E.
Klinische Padiatrie , 2026 (SCI-Expanded, Scopus)

8. Wolf-Hirschhorn syndrome a series of 18 patients: Their clinical characteristics, cytogenetic and molecular findings

Arı A. B. D., Çetinkaya D., Çakar E. Ş., ÇITAK KURT A. N., KILIÇ E.
Neurology Asia , cilt.31, sa.2, ss.781-787, 2026 (SCI-Expanded, Scopus) Creative Commons License

9. Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos Syndrome

Doğan Arı A. B., ARI H., Sezer A., AĞIRBAŞLI D., KURNAZ E., SAVAŞ ERDEVE Ş., et al.
Molecular Syndromology , ss.1-15, 2026 (SCI-Expanded, Scopus)

10. Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant Klinische, radiologische und molekulargenetische Befunde bei sechs neuen Rothmund Thomson-Syndrom-Fällen: Hinweis auf eine RECQL4-Gründermutation

Genç A., Şahiner N., Ceylan A. C., Keceli M., KILIÇ E.
Klinische Padiatrie , 2026 (SCI-Expanded, Scopus)

11. Evaluation of Low Alkaline Phosphatase Levels in Clinical Practice: Implications for Diagnosing Hypophosphatasia

Buyukyilmaz G., Koca S. B., Gören R., Uzdogan A., Adıguzel K. T., KILINÇ UĞURLU A., et al.
Calcified Tissue International , cilt.116, sa.1, 2025 (SCI-Expanded, Scopus)

12. A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis

Senel O. A., KILIÇ E.
Molecular Syndromology , cilt.16, sa.6, ss.601-605, 2025 (SCI-Expanded, Scopus)

13. Clinical Consequences of Cancer-related RAS Signaling Pathway Beyond Malignancy

Taşdelen E., Büke A., Sezer A., Kolkıran A., Kablan A., Arı A. B. D., et al.
Acta Haematologica Oncologica Turcica , cilt.58, sa.3, ss.218-225, 2025 (Scopus, TRDizin) Creative Commons License

14. Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants

Doğan Arı A. B., Türkyılmaz A., Çavdarlı B., KILIÇ E.
European Journal of Medical Genetics , cilt.78, 2025 (SCI-Expanded, Scopus)

15. Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants

Genç A., Ünal Y., CEYLAN A. C., Altan M., GÜRKAŞ E., ÖZYÖRÜK D., et al.
European Journal of Pediatrics , cilt.184, sa.12, 2025 (SCI-Expanded, Scopus)

16. Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients

Doğan Arı A. B., Türkyılmaz A., Kolkıran A., Taşdelen E., KILIÇ E.
European Journal of Pediatrics , cilt.184, sa.11, 2025 (SCI-Expanded, Scopus)

17. Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score

Çetinkaya D., Altan M., KILIÇ E.
Molecular Syndromology , cilt.16, sa.5, ss.436-441, 2025 (SCI-Expanded, Scopus)

18. Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant

Çetinkaya D., Altan M., Ceylan A. C., KILIÇ E.
Molecular Syndromology , cilt.16, sa.5, ss.429-435, 2025 (SCI-Expanded, Scopus)

19. Four New Patients of HHAT-Related Multiple Congenital Anomalies Syndrome (Nivelon-Nivelon-Mabille Syndrome) and a Comprehensive Literature Review

Arı A. B. D., ARI H., Türkyılmaz A., Teralı K., Büyükyılmaz G., SAVAŞ ERDEVE Ş., et al.
American Journal of Medical Genetics, Part A , cilt.197, sa.9, 2025 (SCI-Expanded, Scopus)

20. Hajdu–Cheney Syndrome, a Rare Cause of Acro-Osteolysis and Osteoporosis With Zoledronic Acid Experience

Buyukyilmaz G., Adiguzel M., GÜRBÜZ F., KILIÇ E.
American Journal of Medical Genetics, Part A , cilt.197, sa.5, 2025 (SCI-Expanded, Scopus)

21. Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy

Kasapkara Ç. S., Ürey B. C., Gürbüz B. B., Yavaş A. K., Keçeli A. M., Öncül Ü., et al.
Molecular Syndromology , cilt.16, sa.2, ss.138-151, 2025 (SCI-Expanded, Scopus)

22. A New Case with Weaver Syndrome: Delineating Natural Course and Growth Pattern, Further Clarifying Clinical Phenotype

Ünsal Y., Yıldırım N., BULUŞ A. D., KILIÇ E.
Molecular Syndromology , cilt.16, sa.2, ss.187-193, 2025 (SCI-Expanded, Scopus)

23. A Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation

Doğan Arı A. B., Türkyılmaz A., Keçeli A. M., Önen M., KILIÇ E.
Molecular Syndromology , ss.1-5, 2025 (SCI-Expanded, Scopus)

24. A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum

Daşar T., Kolkiran A., Sezer A., BAL E., KILIÇ E.
Molecular Syndromology , cilt.15, sa.5, ss.409-420, 2024 (SCI-Expanded, Scopus)

25. Meier-Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review

Çetinkaya D., Doǧan Ari A. B., KILIÇ E.
Clinical Dysmorphology , cilt.33, sa.4, ss.167-170, 2024 (SCI-Expanded, Scopus)

26. New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant

KILIÇ E., Koşukcu C.
American Journal of Medical Genetics, Part A , cilt.194, sa.3, 2024 (SCI-Expanded, Scopus)

27. Two Different Diseases with Uric Acid Abnormality in the Same Patient: Be Careful About Routine Biochemical Tests! Zwei unterschiedliche Erkrankungen mit Harnsäureanomalie bei demselben Patienten: Vorsicht bei routinemäßigen biochemischen Tests!

Yürek B., KILIÇ E., ÖZLÜ S. G., Civelek-Ürey B., Klreker-Köylü O., Özen-Yeśil B., et al.
Klinische Padiatrie , cilt.235, sa.5, ss.308-309, 2023 (SCI-Expanded, Scopus)

28. Bisphosphonate treatment at spondylo-ocular syndrome due to a novel compound heterozygote variant in XYLT2 and review of the literature

Buyukyilmaz G., Adiguzel K. T., KILIÇ E.
American Journal of Medical Genetics, Part A , cilt.191, sa.6, ss.1581-1585, 2023 (SCI-Expanded, Scopus)

29. Efficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome

Ünal Yüksekgönül A., AZAK E., Akalın A., ERTUĞRUL İ., KILIÇ E., ÜTİNE G. E., et al.
European Journal of Medical Genetics , cilt.65, sa.6, 2022 (SCI-Expanded, Scopus)

30. Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants

KILIÇ E., Çavdarll B., Büyükyllmaz G., KILIÇ M. K.
Journal of Pediatric Endocrinology and Metabolism , cilt.34, sa.9, ss.1115-1121, 2021 (SCI-Expanded, Scopus)

31. Postoperative cognitive dysfunction developed in donor nephrectomy-Case report

Akelma H., KILIÇ E., Salik F., Bicak E., KAYA Ş.
Nigerian Journal of Clinical Practice , cilt.22, sa.6, ss.877-880, 2019 (SCI-Expanded, Scopus)

32. Pyrethroid intoxication: A rare case report and literature review

Akelma H., Salik F., Bıçak E., Yektaş A., KILIÇ E.
Nigerian Journal of Clinical Practice , cilt.22, sa.3, ss.442-444, 2019 (SCI-Expanded, Scopus)

33. First cardiac manifestation of hypotonia-cystinuria syndrome

KILIÇ M. K., CEYLAN A. C., ÖRÜN U. A., KILIÇ E.
Metabolic Brain Disease , cilt.33, sa.4, ss.1375-1379, 2018 (SCI-Expanded, Scopus)

34. Isotretinoin (13-cis-retinoic acid)-associated premature ventricular contractions

KILIÇ E., ŞAHİN M., ŞAHİN S., Özer S.
Turkish Journal of Pediatrics , cilt.51, sa.4, ss.387-388, 2009 (SCI-Expanded, Scopus)
Metrikler

Yayın

34

Yayın (WoS)

33

Yayın (Scopus)

34

H-İndeks (WoS)

3

Atıf (Scopus)

52

H-İndeks (Scopus)

4

Tez Danışmanlığı

4

Açık Erişim

5