Yayınlar & Eserler

Yayın Ağı
Makaleler 10
Tümü (10)
SCI-E, SSCI, AHCI (10)
SCI-E, SSCI, AHCI, ESCI (10)
Scopus (10)

1. Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2

AKALIN A., Ayaz E., SOĞUKPINAR M., Avci-Durmusalioglu E., ÜREL DEMİR G., YILDIZ A. E., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.194, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

2. A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features

Akalin A., Grzeschik K., ÜTİNE G. E., Boduroǧlu K., ŞİMŞEK KİPER P. Ö.
Molecular Syndromology , 2024 (SCI-Expanded, Scopus) identifier identifier identifier

3. 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 , cilt.36, sa.4, ss.363-371, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

4. 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 , cilt.191, sa.4, ss.1119-1127, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

5. 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 , cilt.66, sa.4, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

6. 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 , cilt.13, sa.6, ss.537-542, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

7. 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 , cilt.65, sa.6, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

8. 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 , cilt.70, sa.4, 2022 (SCI-Expanded, SSCI, Scopus) identifier

9. 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 , cilt.185, sa.10, ss.3104-3110, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

10. 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 , cilt.12, sa.6, ss.335-341, 2021 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 1

1. Neuroimaging features of MOPDII in ten patients with PCNT mutation: A Tertiary Centre Experience

AKALIN A., GÖÇMEN R., Simsek-Kiper P., TAŞKIRAN Z. E., ALANAY Y., HALİLOĞLU V. G., et al.
56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.408-409, (Özet Bildiri) Sürdürülebilir Kalkınma identifier
Metrikler

Yayın

11

Yayın (WoS)

11

Yayın (Scopus)

10

Atıf (WoS)

2

H-İndeks (WoS)

1

Atıf (Scopus)

16

H-İndeks (Scopus)

3

Açık Erişim

1
BM Sürdürülebilir Kalkınma Amaçları