Yayınlar & Eserler

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Novel nonsense CAST mutation in two siblings with PLACK syndrome

DURMAZ ÖZDİNÇ C. D., Tekmenuray-Unal A.
International Journal of Dermatology , cilt.62, sa.10, ss.1295-1299, 2023 (SCI-Expanded) identifier identifier

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)

Ili E. G., Tasdelen E., Durmaz C. D., ALTINER Ş., TUNCALI T., Martinez-Glez V., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.188, sa.6, ss.1792-1800, 2022 (SCI-Expanded) identifier identifier identifier

Undifferentiated Melanoma Resembling Undifferentiated Round Cell Sarcoma: The Diagnostic Power of Molecular Melanoma Signature

KAVUNCUOĞLU A., DURMAZ ÖZDİNÇ C. D., GÖKÖZ Ö., ÜNER A., KÖSEMEHMETOĞLU K.
INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY , cilt.30, sa.3, ss.346-349, 2022 (SCI-Expanded) identifier identifier identifier

Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency

Durmaz C. D., ALTINER Ş., Tasdelen E., KARABULUT H. G., ILGIN RUHİ H.
FETAL AND PEDIATRIC PATHOLOGY , cilt.40, sa.5, ss.486-492, 2021 (SCI-Expanded) identifier identifier identifier

MASP1-related 3MC syndrome in a patient from Turkey

Durmaz C. D., Altiner S.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.7, ss.2267-2270, 2021 (SCI-Expanded) identifier identifier identifier

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A > C(c.1957-2A > C) Mutation in the GLI2 Gene

Demiral M., DEMİRBİLEK H., Unal E., Durmaz C. D., Ceylaner S., Ozbek M. N.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.12, sa.3, ss.319-328, 2020 (SCI-Expanded) Creative Commons License identifier identifier identifier

Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa

Ertop P., Vural S., Ili E. G., Durmaz C. D., HEPER A., McGrath J. A., et al.
INTERNATIONAL JOURNAL OF DERMATOLOGY , cilt.59, sa.7, ss.851-855, 2020 (SCI-Expanded) identifier identifier identifier

H syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skin

An I., Durmaz C. D., ILGIN RUHİ H., Ertop P., Ozturk M., Sula B., et al.
HONG KONG JOURNAL OF DERMATOLOGY & VENEREOLOGY , cilt.27, sa.3, ss.137-140, 2019 (SCI-Expanded) identifier identifier

Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study

VURAL S., Gundogdu M., Illi E. G., Durmaz C. D., Vural A., Steinmuller-Magin L., et al.
BRITISH JOURNAL OF DERMATOLOGY , cilt.180, sa.6, ss.1459-1467, 2019 (SCI-Expanded) identifier identifier identifier

Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

USLU YURTERİ E., Durmaz C. D., KARABULUT H. G., Seifert W., Horn D., AKKAYA Z., et al.
CYTOGENETIC AND GENOME RESEARCH , cilt.158, sa.3, ss.126-132, 2019 (SCI-Expanded) Creative Commons License identifier identifier identifier

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

White J. J., Mazzeu J. F., Coban-Akdemir Z., Bayram Y., Bahrambeigi V., Hoischen A., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.102, sa.1, ss.27-43, 2018 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome

Durmaz C. D., Evans G., Smith M. J., Ertop P., AKAY B., TUNCALI T.
CYTOGENETIC AND GENOME RESEARCH , cilt.154, sa.2, ss.57-61, 2018 (SCI-Expanded) Creative Commons License identifier identifier identifier

A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

Durmaz C. D., McGrath J., Liu L., KARABULUT H. G.
CYTOGENETIC AND GENOME RESEARCH , cilt.154, sa.3, ss.119-121, 2018 (SCI-Expanded) identifier identifier identifier

Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature

Tasdelen E., Durmaz C. D., KARABULUT H. G.
CYTOGENETIC AND GENOME RESEARCH , cilt.154, sa.4, ss.181-186, 2018 (SCI-Expanded) Creative Commons License identifier identifier identifier

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene

Vural S., Ertop P., Durmaz C. D., ŞANLI H., HEPER A., KUNDAKCI N., et al.
CYTOGENETIC AND GENOME RESEARCH , cilt.151, sa.4, ss.186-190, 2017 (SCI-Expanded) identifier identifier identifier

Bilateral choanal atresia in an adult woman with pycnodysostosis

Durmaz C. D., Tas V., Kocaay P., FİTOZ Ö. S., Onay H., BETON S., et al.
CONGENITAL ANOMALIES , cilt.57, sa.3, ss.91-92, 2017 (SCI-Expanded) identifier identifier

Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report

Durmaz C. D., Yararbas K., KUTLAY N., Turedi O., Akin I., Gurbuz C., et al.
CYTOGENETIC AND GENOME RESEARCH , cilt.148, sa.1, ss.19-24, 2016 (SCI-Expanded) identifier identifier identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Pyrin mutations in complex hidradenitis suppurativa

Vural S., Gundogdu M., Ili E. G., Durmaz C. D., Vural A., Steinmueller-Magin L., et al.
Annual Meeting of the British-Society-for-Investigative-Dermatology, Bradford, İngiltere, 1 - 03 Nisan 2019, cilt.180 identifier

Metrikler

Yayın

18

Atıf (WoS)

119

H-İndeks (WoS)

5

Atıf (Scopus)

118

H-İndeks (Scopus)

5

Proje

3

Açık Erişim

5
BM Sürdürülebilir Kalkınma Amaçları