Yayınlar & Eserler

Yayın Ağı
Makaleler 29
Tümü (29)
SCI-E, SSCI, AHCI (28)
SCI-E, SSCI, AHCI, ESCI (29)
ESCI (1)
Scopus (29)
TRDizin (4)

1. Early-Onset Epileptic Encephalopathy and Neurodevelopmental Regression Associated With ST3GAL5 Deficiency

Gokalp S., Guler E., KILIÇ M. K.
American Journal of Medical Genetics, Part A , cilt.200, sa.9, ss.2136-2139, 2026 (SCI-Expanded, Scopus)

2. Muscle Biopsy as a Decisive Tool in a Pediatric Case with Overlapping Genetic Findings for McArdle Disease and Dystrophinopathy

Sayar E., KILIÇ M. K., İcil S., Saka-Ümit P., YÜKSEL D., Sezer A., et al.
Klinische Padiatrie , cilt.238, sa.5, ss.288-291, 2026 (SCI-Expanded, Scopus)

3. Atypical Biallelic Inheritance in “Dominant” Genes: Evidence From a Large-Scale Consanguineus Exome Cohort

Taşdelen E., Tekbaş U. C., Kolkıran A., ÇETİNKAYA S., KILIÇ M. K., Sezer A.
American Journal of Medical Genetics, Part A , cilt.200, sa.9, ss.2088-2098, 2026 (SCI-Expanded, Scopus)

4. Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort

Yılmaz-Gümüş E., KILAVUZ S., Demir Ş., Aydoğan A., Genç E., Akar H. T., et al.
Molecular Genetics and Metabolism , cilt.148, sa.4, 2026 (SCI-Expanded, Scopus)

5. A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorder

KILIÇ M. K., İcil S., Sayar E., Doğan S., Gökçe-Altaş G., Güler E., et al.
Journal of Pediatric Endocrinology and Metabolism , cilt.39, sa.7, ss.681-689, 2026 (SCI-Expanded, Scopus)

6. Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome

İcil S., KILIÇ M. K., Sayar E., Sezer A.
Molecular Syndromology , cilt.17, sa.3, ss.238-254, 2026 (SCI-Expanded, Scopus)

7. Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance

KILIÇ M. K., Sayar E., İcil S., Sezer A.
Molecular Syndromology , 2026 (SCI-Expanded, Scopus)

8. A Systematic Bioinformatic Analysis of the miRNA Pathway in Inborn Errors of Amino Acid Metabolism Disorders

Bayrak H., Sharafi P., KILIÇ M. K.
Molecular Syndromology , ss.1-12, 2026 (SCI-Expanded, Scopus)

9. A Rare Presentation of Duchenne Muscular Dystrophy: Acute Rhabdomyolysis Eine seltene Manifestation der Duchenne-Muskeldystrophie: Akute Rhabdomyolyse

Sayar E., KILIÇ M. K., İcil S., Kolkıran A., Sezer A.
Klinische Padiatrie , 2026 (SCI-Expanded, Scopus)

10. Novel FUCA1 variants in two families, including the first report of a contiguous gene deletion syndrome involving FUCA1 and HMGCL

KILIÇ M. K., Yıldız H., Bir F. D.
Turkish Journal of Pediatrics , cilt.67, sa.6, ss.896-903, 2025 (SCI-Expanded, Scopus, TRDizin)

11. Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia

Bayrak H., Sharafi P., Özketen A. Ç., KILIÇ M. K.
Molecular Syndromology , cilt.17, sa.4, ss.347-362, 2025 (SCI-Expanded, Scopus)

12. Effects of miRNAs in inborn error of metabolism and treatment strategies

Bayrak H., Sharafi P., Özketen A. Ç., KILIÇ M. K.
Postgraduate Medical Journal , cilt.101, sa.1199, ss.791-803, 2025 (SCI-Expanded, Scopus)

13. Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation

KILIÇ M. K., Sayar E., İcil S., Doğan S., Gökçe-Altaş G., Koşukcu C., et al.
American Journal of Medical Genetics, Part A , cilt.197, sa.7, 2025 (SCI-Expanded, Scopus)

14. Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy

KILIÇ M. K., Yıldız H., KONUŞKAN B.
Acta Neurologica Belgica , cilt.125, sa.3, ss.861-864, 2025 (SCI-Expanded, Scopus)

15. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia

Kahraman A. B., Çelik H., BAĞCI Z., Sezer A., KILIÇ M. K.
Molecular Genetics and Metabolism Reports , cilt.43, 2025 (SCI-Expanded, Scopus)

16. Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders

Kuzucu F., KILIÇ M. K., Sezer A., Has-Ozhan S., Yildiz H., Celen-Yoldas T., et al.
Metabolic Brain Disease , cilt.40, sa.5, 2025 (SCI-Expanded, Scopus)

17. Sialidosis type 1 in a Turkish family: a case report and review of literatures

KILIÇ M. K., İcil S., Sezer A., Kaya-Güneş Ö., Comoğlu S. S.
Journal of Pediatric Endocrinology and Metabolism , cilt.38, sa.2, ss.176-186, 2025 (SCI-Expanded, Scopus)

18. Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye

Özsaydi Aktaşoğlu E., İNCİ A., ÖKTEM R. M., BİBEROĞLU G., OKUR İ., EZGÜ F. S., et al.
Turkish Journal of Medical Sciences , cilt.55, sa.3, ss.585-594, 2025 (SCI-Expanded, Scopus, TRDizin)

19. RMND1 Mutation Case Report and Literature Review

Bayrak H., Sezer A., KILIÇ M. K.
Molecular Syndromology , cilt.15, sa.6, ss.487-494, 2024 (SCI-Expanded, Scopus)

20. SERAC1 gene mutation presented with markedly alpha fetoprotein elevation: case report

Bayrak H., Sezer A., Danış A., Özhan S. H., Yıldız H., KILIÇ M. K.
Acta Neurologica Belgica , cilt.124, sa.1, ss.307-309, 2024 (SCI-Expanded, Scopus)

21. Evaluation of risk factors, functionalities, and quality of life in patients with pediatric acute arterial ischemic stroke

Özdemir F. M. A., Öztoprak Ü., FETTAH A., ÖRÜN U. A., KILIÇ M. K., Sarıkaya F. G., et al.
Turkish Journal of Pediatrics , cilt.65, sa.2, ss.309-320, 2023 (SCI-Expanded, Scopus, TRDizin)

22. Evaluation of clinical and electroencephalographic findings in patients with early childhood epilepsy and inborn errors of metabolism

Celik H., Ozdemir F. M. A., Aksoy E., Oztoprak U., KILIÇ M. K., YÜKSEL D.
Acta Neurologica Belgica , cilt.122, sa.6, ss.1575-1581, 2022 (SCI-Expanded, Scopus)

23. The COVID-19 pandemic and enzyme replacement therapy in lysosomal storage disorders

Olgaç A., Kasapkara Ç. S., Açıkel B., YILDIZ Y., Molla G. K., KILIÇ M. K.
Journal of Pediatric Research , cilt.8, sa.4, ss.370-376, 2021 (ESCI, Scopus, TRDizin)

24. Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: A single center experience

Olgac A., Kasapkara Ç. S., Derinkuyu B., YÜKSEL D., ÇETİNKAYA S., Aksoy A., et al.
Journal of Pediatric Endocrinology and Metabolism , cilt.34, sa.9, ss.1169-1179, 2021 (SCI-Expanded, Scopus)

25. MAN1B1-CDG: Novel patients and novel variant

Kasapkara C. S., Olgac A., KILIÇ M. K., Keldermans L., Matthijs G., Jaeken J.
Journal of Pediatric Endocrinology and Metabolism , cilt.34, sa.9, ss.1207-1209, 2021 (SCI-Expanded, Scopus)

26. 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)

27. Carbonic anhydrase VA deficiency: A very rare case of hyperammonemic encephalopathy

Olgac A., Kasapkara C. S., KILIÇ M. K., Keskin E. Y., SANDAL G., Cram D. S., et al.
Journal of Pediatric Endocrinology and Metabolism , cilt.33, sa.10, ss.1349-1352, 2020 (SCI-Expanded, Scopus)

28. A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation

Olgac A., Öztoprak Ü., Kasapkara Ç. S., KILIÇ M. K., YÜKSEL D., Derinkuyu E. B., et al.
Journal of Pediatric Endocrinology and Metabolism , cilt.33, sa.1, ss.165-170, 2020 (SCI-Expanded, Scopus)

29. 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)
Kitaplar 1

1. Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency

KILIÇ M. K., ÖZGÜL R. K., Coşkun T., Yücel D., KARACA M. A., Sivri H., et al.
JIMD Reports, Springer, ss.17-23, 2012
Metrikler

Yayın

30

Yayın (WoS)

29

Yayın (Scopus)

30

H-İndeks (WoS)

5

Atıf (Scopus)

101

H-İndeks (Scopus)

5

Atıf (TrDizin)

2

H-İndeks (TrDizin)

1

Atıf (Diğer Toplam)

2

Tez Danışmanlığı

13

Açık Erişim

13
BM Sürdürülebilir Kalkınma Amaçları
SDG 3: AMAÇ 3: SAĞLIKLI BİREYLER
SDG 16: AMAÇ 16: BARIŞ VE ADALET
SDG 17: AMAÇ 17: AMAÇLAR İÇİN ORTAKLIKLAR