Publications & Works

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Published journal articles indexed by SCI, SSCI, and AHCI

Assessing the Menstrual Cycle and Related Problems in Adolescents with a Genetic Syndrome Associated with Intellectual Disability

Çınar H. Ü., Kızılkan M. P., AKALIN A., Kiper P. Ö. Ş., ÜTİNE G. E., DERMAN O., et al.
Journal of Pediatric and Adolescent Gynecology , vol.36, no.4, pp.363-371, 2023 (SCI-Expanded) identifier identifier

A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features

AKALIN A., ŞİMŞEK KİPER P. Ö., Taşkıran E. Z., KARAOSMANOĞLU B., ÜTİNE G. E., BODUROĞLU O. K.
American Journal of Medical Genetics, Part A , vol.191, no.4, pp.1119-1127, 2023 (SCI-Expanded) identifier identifier identifier

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients

AKALIN A., Özşin C., KOÇ N., Demir G. Ü., ALANAY Y., Utine E., et al.
European Journal of Medical Genetics , vol.66, no.4, 2023 (SCI-Expanded) identifier identifier identifier

Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions

AKALIN A., Simsek-Kiper P. O., Taskiran E., ÜTİNE G. E., BODUROĞLU O. K.
MOLECULAR SYNDROMOLOGY , vol.13, no.6, pp.537-542, 2023 (SCI-Expanded) identifier identifier identifier

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

ÜNAL YÜKSEKGÖNÜL A., Azak E., AKALIN A., ERTUĞRUL İ., Kilic E., ÜTİNE G. E., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , vol.65, no.6, 2022 (SCI-Expanded) identifier identifier identifier

MENSTRUATION RELATED QUALITY OF LIFE IN ADOLESCENTS WITH GENETIC SYNDROMES ACCOMPANYING AN INTELLECTUAL DISABILITY

ÜÇLER ÇINAR H., PEHLİVANTÜRK KIZILKAN M., KANBUR N., DERMAN O., TÜZÜN GÜN Z., ÜTİNE G. E., et al.
JOURNAL OF ADOLESCENT HEALTH , vol.70, no.4, 2022 (SCI-Expanded) identifier

Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature

AKALIN A., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., Utine E., ALANAY Y., Ozcelik U., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.185, no.10, pp.3104-3110, 2021 (SCI-Expanded) identifier identifier identifier

Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients

AKALIN A., ERTUĞRUL İ., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.
MOLECULAR SYNDROMOLOGY , vol.12, no.6, pp.335-341, 2021 (SCI-Expanded) Creative Commons License identifier identifier identifier

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