Yayınlar & Eserler

Yayın Ağı
Makaleler 15
Tümü (15)
SCI-E, SSCI, AHCI (13)
SCI-E, SSCI, AHCI, ESCI (14)
ESCI (1)
Scopus (14)
TRDizin (2)

1. Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort

AKAR H. T., KAHRAMAN A. B., YILDIZ Y., Baran B., ÇIKI K., COŞKUN T., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , sa.4, ss.399-405, 2025 (SCI-Expanded, Scopus) identifier identifier

2. Assessing sleep habits in school-aged children with phenylketonuria: a comparative study

Yesil A. M., AKAR H. T., YILDIZ Y., SİVRİ S., ÖZMERT E. N.
EUROPEAN JOURNAL OF PEDIATRICS , sa.3, 2025 (SCI-Expanded, Scopus) Creative Commons License identifier identifier

3. High prevalence of low bone mineral density in young adults with phenylketonuria

ÇIKI K., KAHRAMAN A. B., AKAR H. T., YILDIZ Y., DURSUN A., Tokatli A., et al.
POSTGRADUATE MEDICINE , sa.1, ss.86-92, 2025 (SCI-Expanded, Scopus) identifier identifier identifier

4. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1484-1485, 2024 (SCI-Expanded, Scopus) identifier

5. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1484-1485, 2024 (SCI-Expanded, Scopus) identifier

6. Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome

ENSERT CİHAN C. K., AKAR H. T., Ylldlz Y., SOĞUKPINAR M., ÜTİNE G. E., ÇELİK H. T.
Molecular Syndromology , cilt.15, sa.1, ss.83-88, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

7. From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood

Ozbek E. D., Nezerli J., AKAR H. T., Yilmaz D. Y., DURSUN A., GÖÇMEN R., et al.
ARCHIVES OF EPILEPSY , cilt.30, sa.2, ss.53-55, 2024 (ESCI, Scopus, TRDizin) Creative Commons License Sürdürülebilir Kalkınma identifier identifier

8. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.
Brain : a journal of neurology , cilt.147, sa.1, ss.311-324, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

9. COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity

KAHRAMAN A. B., YILDIZ Y., ÇIKI K., Erdal I., AKAR H. T., DURSUN A., et al.
Molecular Genetics and Metabolism , cilt.139, sa.2, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

10. A Novel Double Homozygous BTD Gene Mutation in A Case of Profound Biotinidase Deficiency

DEVECİ K., AKAR H. T., YILDIZ Y., ÖZGÜL R. K.
Türkiye Çocuk Hastalıkları Dergisi , 2022 (TRDizin) Creative Commons License

11. Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases

KAHRAMAN A. B., AKAR H. T., Lafci N. G., YILDIZ Y., Tokatli A.
MOLECULAR SYNDROMOLOGY , cilt.13, sa.3, ss.193-199, 2022 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

12. Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity

DURSUN A., YALNIZOĞLU D., Yilmaz D. Y., Oguz K. K., GÜLBAKAN B., KOŞUKCU C., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.64, sa.11, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

13. Challenging diagnosis and rare disease in children: Dermatitis artefacta

Isıyel E., Ersoy Evans S., Akar H. T., Gurbanov A., Karaduman A., Foto Özdemir D., et al.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH , cilt.57, sa.10, ss.1710-1712, 2021 (SCI-Expanded, Scopus) identifier identifier

14. Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center

ÇELEN YOLDAŞ T., BİLGİNER GÜRBÜZ B., AKAR H. T., ÖZMERT E. N., COŞKUN T.
TURKISH JOURNAL OF PEDIATRICS , cilt.63, sa.5, ss.767-779, 2021 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

15. Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency

AKAR H. T., Çağan M., YILDIZ Y., SİVRİ H. S.
NEUROMUSCULAR DISORDERS , cilt.31, sa.6, ss.566-569, 2021 (SCI-Expanded, Scopus) identifier identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 1

1. A Patient with Germline Heterozygous Missense IKZF1 Mutation

YAKICI N., cetinkaya p., TAN Ç., AKAR H. T., ÖZBEK B., ÇAĞDAŞ AYVAZ D. N., et al.
ESID-2019, 18 - 21 Eylül 2019, (Özet Bildiri)
Metrikler

Yayın

16

Yayın (WoS)

14

Yayın (Scopus)

14

Atıf (WoS)

24

H-İndeks (WoS)

3

Atıf (Scopus)

9

H-İndeks (Scopus)

2

Atıf (Scholar)

6

H-İndeks (Scholar)

1

Açık Erişim

5
BM Sürdürülebilir Kalkınma Amaçları