Yayınlar & Eserler

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria

GÜLERAY LAFCI N., van Goor M., Cetinkaya S., van der Wijst J., Acun M., Kurt Colak F., et al.
European Journal of Human Genetics , 2024 (SCI-Expanded) identifier identifier

Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome

Güleray Lafcl N., KARAOSMANOĞLU B., TAŞKIRAN Z. E., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E.
Molecular Syndromology , cilt.14, sa.3, ss.258-265, 2023 (SCI-Expanded) identifier identifier identifier

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

Güleray N., Koşukcu C., Oğuz S., Ürel Demir G., Taşkıran E. Z., Kiper P. Ö. Ş., et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL , cilt.59, sa.9, ss.1114-1124, 2022 (SCI-Expanded) identifier identifier identifier

A Case of SHOX Deletion Due to Isodicentric Y Chromosome Anomaly with Multiple Endocrine Disorders

Orman B., Kucukali G. K., GÜLERAY LAFCI N., Donmez B. O., Erdeve S. S., Cetinkaya S.
HORMONE RESEARCH IN PAEDIATRICS , cilt.95, sa.SUPPL 2, ss.533-534, 2022 (SCI-Expanded) identifier

Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway

Lafci N., Colak F. K., Sahin G., Sakar M., Cetinkaya S., Savas-Erdeve S.
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM , cilt.20, sa.3, ss.581-585, 2021 (SCI-Expanded) identifier identifier identifier

Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience

Olgac A., Kasaplcara C. S., Derinkuyu B., Yuksel D., Cetinkaya S., Aksoy A., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.9, ss.1169-1179, 2021 (SCI-Expanded) identifier identifier identifier

Clinical Management in Systemic Type Pseudohypoaldosteronism Due to <i>SCNN1B</i> Variant and Literature Review.

Karacan Küçükali G., Çetinkaya S., Tunç G., Oğuz M. M., Çelik N., Akkaş K. Y., et al.
Journal of clinical research in pediatric endocrinology , cilt.13, ss.446-451, 2021 (SCI-Expanded) Creative Commons License identifier identifier identifier identifier

An intronic variant inBRAT1creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity

Colak F. K., Guleray N., Azapagasi E., Yazici M. U., Aksoy E., Ceylan N.
ACTA NEUROLOGICA BELGICA , cilt.120, sa.6, ss.1425-1432, 2020 (SCI-Expanded) Creative Commons License identifier identifier identifier

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Guleray N., Kosukcu C., Taskiran Z., Simsek K., Utine G., Gucer S., et al.
Fetal and pediatric pathology , cilt.39, sa.2, ss.163-171, 2020 (SCI-Expanded) identifier identifier identifier

Café noir spots: a feature of familial progressive hyper- and hypopigmentation.

Gulseren D., Guleray N., Akgun-Dogan O., Simsek-Kiper P. O., Utine E. G., Alikasifoglu M., et al.
Journal of the European Academy of Dermatology and Venereology : JEADV , cilt.34, sa.2, 2020 (SCI-Expanded) identifier identifier identifier

Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)

Ürel-Demir G., Akgün-Doǧan Ö., OĞUZ S., Güleray-Lafcl N., Şimşek-Kiper P. Ö., Eda Utine G., et al.
MOLECULAR SYNDROMOLOGY , cilt.11, sa.1, ss.38-42, 2020 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Ozen S., Bilginer Y., Batu E., Taşkıran E., Özkara H. A., Ünal Ş., et al.
JOURNAL OF RHEUMATOLOGY , cilt.47, sa.1, ss.117-125, 2020 (SCI-Expanded) identifier identifier identifier

Peters Plus syndrome: a recognizable clinical entity

ÜREL DEMİR G., Lafci N., Dogan O. A., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E.
TURKISH JOURNAL OF PEDIATRICS , cilt.62, sa.1, ss.136-140, 2020 (SCI-Expanded) Creative Commons License identifier identifier identifier

Intrafamilial variability of XYLT2-related spondyloocular syndrome

Guleray N., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., Boduroglu K., ALİKAŞİFOĞLU M.
European Journal of Medical Genetics , cilt.62, sa.11, 2019 (SCI-Expanded) identifier identifier identifier

Retrospective analysis of indications for termination of pregnancy

ÖZYÜNCÜ Ö., ÖRGÜL G., TANAÇAN A., AKTOZ F., GÜLERAY N., FADILOĞLU E., et al.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY , cilt.39, sa.3, ss.355-358, 2019 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Evaluation of Pregnancies in 25 Families with Balanced/Unbalanced Chromosomal Translocations

GÜLERAY N., Yucesoy H. M., FADILOĞLU E., TANAÇAN A., ALİKAŞİFOĞLU M., BEKSAÇ M. S.
INTERNATIONAL JOURNAL OF HUMAN GENETICS , cilt.19, sa.1, ss.22-28, 2019 (SCI-Expanded) Creative Commons License identifier

Growth Hormon Deficiency in Identical Twins with Gitelman Syndrome Due to Compound Heterozygous Mutation (p.R80fs*35/p.K957X) of the SLC12A3 Gene and the Evaluation of the Response to Growth Hormone Replacement Therapy

Yaman B., Celegen K., Korkmaz E., Lafci N., Balik Z., DEMİRBİLEK H., et al.
HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.461-462, 2018 (SCI-Expanded) identifier

Partial Trisomy 18 From a marker chromosome to a rare chromosomal disorder

OĞUZ S., GÜLERAY N., DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., et al.
MOLECULAR CYTOGENETICS , cilt.10, 2017 (SCI-Expanded) identifier

HERC1 mutations in idiopathic intellectual disability

ÜTİNE G. E., Taskiran E. Z., KOŞUKCU C., KARAOSMANOĞLU B., GÜLERAY N., Dogan O. A., et al.
European Journal of Medical Genetics , cilt.60, sa.5, ss.279-283, 2017 (SCI-Expanded) identifier identifier identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Expanding the clinical and mutational spectrum of Roberts syndrome with previously unreported endoctrine findings.

GÜLERAY N., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ALİKAŞİFOĞLU M.
European Human Genetics Conference, 16 - 19 Haziran 2018

Oküloaurikülovertebral spektrumda 5p delesyonu

ÜREL DEMİR G., OĞUZ S., GÜLERAY N., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.
3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Türkiye, 11 - 13 Ekim 2017

6p25.3 delesyonu

AKGÜN DOĞAN Ö., ÜREL DEMİR G., GÜLERAY N., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., KUTLUK M. T., et al.
3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Türkiye, 11 - 13 Ekim 2017

Taşıyıcı kız kardeşlerin oğullarında zihinsel yetersizlik

ÜREL DEMİR G., OĞUZ S., GÜLERAY N., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., et al.
3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Türkiye, 11 - 13 Ekim 2017

Partial Trisomy 18 From a marker chromosome to a rare chromosomal disorder

OĞUZ S., GÜLERAY N., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., et al.
European Cytogenetics Conference, 1 - 04 Temmuz 2017

Hennekam sendromu Otozomal resesif geçişli bir konjenital lenfödem

GÜLERAY N., ÖZER M., AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K.
2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Türkiye, 22 - 24 Ekim 2015

Roberts SC Phocomelia Syndrome A Rare Clinical Entity

GÜLERAY N., ŞİMŞEK KİPER P. Ö., DEMİREL M., ÇETİNKAYA A., ÜTİNE G. E., ALİKAŞİFOĞLU M., et al.
International Skeletal Dysplasia Society 12th Biennial Meeting, 29 Temmuz - 01 Ağustos 2015

Metrikler

Yayın

28

Atıf (WoS)

78

H-İndeks (WoS)

4

Atıf (Scopus)

135

H-İndeks (Scopus)

5

Proje

6

Açık Erişim

5
BM Sürdürülebilir Kalkınma Amaçları