Yayınlar & Eserler

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

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) identifier identifier

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) identifier identifier

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) identifier identifier

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) Creative Commons License identifier identifier identifier

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) identifier identifier identifier

Challenging diagnosis and rare disease in children: Dermatitis artefacta

ISIYEL E., ERSOY EVANS S., AKAR H. T., Gurbanov A., KARADUMAN A., FOTO ÖZDEMİR D., et al.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH , cilt.57, sa.10, ss.1710-1712, 2021 (SCI-Expanded) identifier identifier

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) Creative Commons License identifier identifier identifier

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) identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

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 , sa.2, ss.53-55, 2024 (ESCI) Creative Commons License Sürdürülebilir Kalkınma identifier

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 (Hakemli Dergi) Creative Commons License

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

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

Metrikler

Yayın

11

Atıf (WoS)

1

H-İndeks (WoS)

1

Atıf (Scopus)

8

H-İndeks (Scopus)

1

Açık Erişim

4
BM Sürdürülebilir Kalkınma Amaçları