SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
17 B-Hydroxysteroid Dehydrogenase Type 3 Deficiency Diagnosed in Early Childhood
HORMONE RESEARCH IN PAEDIATRICS
, cilt.95, sa.SUPPL 2, ss.393, 2022 (SCI-Expanded)
Thyroid hormone receptor resistance alpha: Case report
HORMONE RESEARCH IN PAEDIATRICS
, cilt.95, sa.SUPPL 2, ss.410, 2022 (SCI-Expanded)
Infantile Hypercalcemia Type 2 Due to Novel Mutation in SLC34A1 Gene
HORMONE RESEARCH IN PAEDIATRICS
, cilt.95, sa.SUPPL 2, ss.150, 2022 (SCI-Expanded)
Case with HOXA gene cluster delete
HORMONE RESEARCH IN PAEDIATRICS
, cilt.95, sa.SUPPL 2, ss.315-316, 2022 (SCI-Expanded)
An infant with two de novo variants causing recessive and dominant disorders: Diagnostic challenge
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, ss.895, 2020 (SCI-Expanded)
A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
, cilt.12, sa.3, ss.308-314, 2020 (SCI-Expanded)
A case of panhipopituitarism with SOX3 gene deletion
HORMONE RESEARCH IN PAEDIATRICS
, ss.179, 2019 (SCI-Expanded)
Dual overlapping phenotype recessively inherited due to paternal unipaternal disomy of chromosome 2 (pUPD2) in a patient
European Journal Of Human Genetics
, cilt.27, ss.384-385, 2019 (SCI-Expanded)
Ten patients with single gene disorders diagnosed by chromosomal microarray
BALKAN JOURNAL OF MEDICAL GENETICS
, cilt.22, sa.1, ss.128, 2019 (SCI-Expanded)
A new patient with dual diagnosis: not as rare as assumed
BALKAN JOURNAL OF MEDICAL GENETICS
, cilt.22, sa.1, ss.130, 2019 (SCI-Expanded)
Eight new patient with autosomal recessive hereditary spastic paraplegia diagnosed via WES analysis
BALKAN MEDICAL JOURNAL
, cilt.22, sa.1, ss.207, 2019 (SCI-Expanded)
A novel RYR 1 gene mutation in a patient with severe central core disease
European Journal Of Human Genetics
, cilt.26, ss.423-424, 2018 (SCI-Expanded)
Duplication of HTR 7 gene in a patient: Is it a possible cause of autism and congenital cataract ?
European Journal Of Human Genetics
, cilt.26, ss.466, 2018 (SCI-Expanded)
Molecular karyotyping in ten patients with isolated anorectal malformation
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.26, ss.113-819, 2018 (SCI-Expanded)
The evaluation of long-term effects of ionizing radiation through measurement of current sister chromatid exchange (SCE) rates in radiology technologists, compared with previous SCE values
MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS
, cilt.757, sa.1, ss.28-30, 2013 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler
PREDICTION OF GENOTYPE POSITIVITY IN PATIENTS WITH KIDNEY DISEASE USING MACHINE LEARNING
BANTAO JOURNAL
, cilt.20, ss.39-40, 2022 (ESCI)
Two patients with Epidemolisis Bullosa
Gazi Medical Journal
, cilt.31, sa.2, 2020 (ESCI)
A report of two siblings diagnosed with Cutis Laxa
Gazi Medical Journal
, cilt.31, sa.2, 2020 (ESCI)
Two new patients diagnosed with Trichothiodystrophy type 1
Gazi Medical Journal
, cilt.31, sa.2, 2020 (ESCI)
A combined oxidative phosphorylation deficiency 10 case in a non-consanguineous family.
Erciyes Medical Journal
, cilt.41, ss.50-51, 2019 (Hakemli Dergi)
A new family with 3q27.3q29 İnterstitial Deletion
GAZI MEDICAL JOURNAL
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
ADNP Gene in the Etiology of Syndromic Autism: A case report
Gazi Medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
A new family with 3q27.3.3q29 interstitial deletion
Gazi Medical Journal
, cilt.30, sa.1, ss.32, 2019 (Scopus)
Akraba Evliliklerine Genetik Yaklaşım
Türkiye Klinikleri Tıbbi Genetik-Özel Konular
, cilt.81, sa.4, 2019 (Hakemsiz Dergi)
The Pathogenic Role of Xp22.31 copy number variations and literarure review
Gazi medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
Deletion of the SOX3 Gene Causes Panhypopituitarism: A Case Report
Gazi Medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
A rare form of interstitial deletion of chromosome 9q21.33q22.31: A case report
Gazi Medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
A PATIENT WITH TWO SYNDROMES DUE TO PATERNALUNIPARENTAL DISOMY OF CHROMOSOME 2 (pUPD2)RELATED WITH HOMOZYGOUS NOVEL MUTATIONS OF THERAB3GAP1 AND UNC80 GENES
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, ss.35-79, 2018 (Hakemli Dergi)
Lethal multiple pterygıum syndrome related with RYR1 gene mutation
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, 2018 (Scopus)
HAPLOINSUFFICIENCY OF ZNF462 GENE IN A PATIENT WITHINTERSTITIAL DELETION OF CHROMOSOME 9q
Erciyes Medical Journal
, cilt.40, sa.2, ss.35-79, 2018 (Hakemli Dergi)
Lethal Multıple Pterygıum Syndrome related wıth RYR1 gene gene mutatıon
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, 2018 (Scopus)
LETHAL MULTIPLE PTERYGIUM SYNDROME RELATED WITHRYR1 GENE MUTATION
Erciyes Medical Journal
, cilt.40, sa.2, ss.70-73, 2018 (Hakemli Dergi)
Normal Karyotipe Sahip Usg Anomalisi Olan Fetüslerde Kromozomal Mikroarray Ve Yeni Nesil Dizi Analizi
Turkiye Klinikleri Journal of Medical Genetics
, cilt.3, sa.1, ss.70-73, 2018 (Hakemli Dergi)
A report of two infertile patients with isodicentric short arm of chromosome Y
ERCIYES MEDICAL JOURNAL
, cilt.39, ss.51, 2017 (Hakemli Dergi)
Prenatal diagnosis of a complex chromosomal rearrangement by the usage of conventional and array karyotyping
ERCIYES MEDICAL JOURNAL
, cilt.39, ss.70, 2017 (Hakemli Dergi)
Is hypopigmented skin patch a new symptom of Roberts/SC phocomelia syndrome
ERCIYES MEDICAL JOURNAL
, cilt.39, ss.10, 2017 (Hakemli Dergi)
A new case with mosaic trisomy 19q
Erciyes Medical Journal
, cilt.38, sa.1, ss.32, 2016 (Hakemli Dergi)
Kromozomal Bozukluklara Bağlı Oluşan SendromlarSyndromes Related with Chromosomal Abnormalities
Turkiye Klinikleri J Orthop Traumatol-Special Topics
, cilt.5, sa.2, ss.8-11, 2012 (Hakemsiz Dergi)
Kromozomal Bozukluklara Bağlı Oluşan Sendromlar
Türkiye Klinikleri Ortopedi Travmatoloji-Özel Konular
, cilt.5, sa.2, 2012 (Hakemsiz Dergi)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar
WFDC2 mutasyonu: Nazal polip ve bronşektazinin nadir bir nedeni
8. Çocuk Göğüs Hastalıkları Kongresi, Diyarbakır, Türkiye, 18 - 20 Ekim 2024
Klinikte Stargardt Hastalığı Tanısı Alan Hastaların Genotip Değerlendirmesi: Türkiye'den Yeni Varyantlar
TOD 57. ulusal kongre, Antalya, Türkiye, 8 - 12 Kasım 2023, ss.819
Cerrahi tedavi uygulanan familyal eksudatif vitreoretinopati hastalarında fonksiyonel ve anatomik sonuçların incelenmesi
TÜRK OFTALMOLOJİ DERNEĞİ 57. ULUSAL KONGRE, 08 Kasım 2023
Three cases of fatco syndrom
Eurodysmorpho 2023, Portekiz, 13 Eylül 2023
A RARE GENETIC CAUSE OF CIRRHOSIS IN A TURKISH CHILD: TRANSALDOLASE DEFICIENCY
, The 55th Annual Meeting of The European Society of Paediatric Gastroenterology, Hepatology and Nutrition, Vienna, Avusturya, 17 - 20 Mayıs 2023, ss.904
Curry Jones Sendromlu Nadir Bir Olgu
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 09 Kasım 2022, ss.242-243
Dismorfik Bir Olguda Tersiyer Trizomi 9P ve Trizomi 9Q
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 09 Kasım 2022, ss.247
Pcdh19 Geninde Mutasyon Saptanan İki Olgu
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 09 Kasım 2022, ss.62
Erken Tanının Önemli Olduğu, Infantil Diyare ve Nörodejenerasyonla Giden Serebrotendinöz Ksantomatozis Hastalığı: Iki Olgu Sunumu
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 09 Kasım 2022, ss.213
Herediter Spastik Parapleji Ön Tanılı Hastalarda Etiyolojinin Tüm Ekzom Dizi Analizi Verileriyle Retrospektif Olarak Değerlendirilmesi
15. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 09 Kasım 2022, ss.41
FATCO sendromlu iki olgu
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.1
Olgu Sunumu: U2AF2'de c.445C>T varyantı saptanan nörogelişimsel gerilikli bir hasta
7. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Türkiye, 26 - 28 Mayıs 2022, ss.134
Kriptooftalminin Eşlik Etmediği Fraser Sendromlu Olguda Yeni Bir Varyant
7. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Türkiye, 26 - 28 Mayıs 2022, ss.143
SMN1 gen delesyonu dışlanmış Spinal Musküler Atrofi ön tanılı çocuklarda etiyolojinin tüm ekzom dizi analizi verilerine dayanarak retrospektif olarak araştırılması.
14. Ulusal Tıbbi Genetik Kongresi“Uluslararası Katılımlı”, Türkiye, 20 - 22 Kasım 2020
The pathogenic role of Xp22.31 copy number variations and literature review
13. ulusal tıbbi genetik kongresi, Türkiye, 7 - 10 Kasım 2018
A heterozygous mutation NM_000518_c.7C T (p.His3Tyr) in exon 1 in the HBB gene causing HbA1c interference: Hb Fukuoka
FEBS OPEN BIO, 7 - 12 Temmuz 2018, cilt.8, ss.268
Copy number variation analysis in autism spectrum disorders
european human genetics conference, 16 - 20 Haziran 2018
P09.023C / C - Copy number variation analysis in autism spectrum disorders
ESHG 2018, 16 - 19 Haziran 2018
Dual overlapping phenotype recessively inherited due to paternal uniparental disomy of chromosome 2(pUPD2) in a patient
51st Conference of Theocharis European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.384-385
IS HYPOPIGMENTED SKIN PATCH A NEW SYMPTOM OFROBERTS / SC PHOCOMELIA SYNDROME?
Erciyes Medical Genetics Days 2017, Kayseri, Türkiye, 11 - 13 Mayıs 2017, cilt.39, ss.48
Is there any relationship between NRG1 gene duplication and cardiac findings in two prenatal cases with invdupdel(8p) syndrome?
European Human Genetics Conference, Kopenhag, Danimarka, Kopenhag, Danimarka, 27 - 30 Mayıs 2017
P03.02B/B - Molecular karyotyping in ten patients with isolated anorectal malformation
European Human Genetics Conference, Cophenhagen, Denmark, 27 - 30 Mayıs 2017
P10.07C/C - A novel RYR 1 gene mutation in a patient with severe central core disease
European Human Genetics Conference Copenhagen, Denmark, May 27-30, 2017, 27 - 30 Mayıs 2017
P11.034B/B - Duplication of HTR 7 gene in a patient: Is it a possible cause of autism and congenital cataract ?
European Human Genetics Conference, Cophenhagen, Denmark, 27 - 30 Mayıs 2017
Prenatal diagnosis of a complex chromosomal rearrangement by the usage of conventional and array karyotyping.
Erciyes Tıp Genetik Günleri 2017, Kayseri, Türkiye, 11 - 13 Mayıs 2017, ss.1
Entellektüel yetersizlik ve veya konjenital anomalisi olan hastalarda array CGHsonuçları
12. ulusal tıbbi genetik kongresi, Türkiye, 5 - 09 Ekim 2016
Otizmin Genetik Nedenleri ve Tanı Süreçleri
Tıbbi genetik eğitim toplantısı, Ankara, Türkiye, 30 Nisan 2016
Gelişme geriliği ve epilepsisi olan birolguda array CGH sonucu
3. Nörometabolik dismorfoloji sempozyumu, çeşme, Türkiye, 10 - 12 Mart 2016
İyonize radyasyonun radyoloji teknisyenleri üzerindeki uzun dönem etkilerinin SCE analizi ile değerlendirilmesi: Önceki ve mevcut SCE değerlerinin karşılaştırılması.
10. Ulusal Tıbbi Genetik Kongresi, 19 Aralık 2012
Parsiyel monozomi 12p13.33→p13.33 ve parsiyel trizomi 11q14.1→q25’li bir olguda moleküler karyotipleme: Literatürün gözden geçirilmesi.
10. Ulusal Tıbbi Genetik Kongresi, 19 Aralık 2012
Chromosomal Array AnalysisReveals Partial 11q Duplication and Partial 12p Deletion in A Mildly Affected Case
10. Ulusal tıbbiGenetik Kongresi, Bursa, 2012., Bursa, Türkiye, 18 - 22 Aralık 2012
The evaluation of long term effects of ionizingradiation through measurement of current sister chromatid exchange SCE rates in radiologytechnologists compared with previous SCE values
Ulusal tıbbi Genetik Kongresi, Bursa, 2012., Bursa, Türkiye, 18 - 22 Aralık 2012
Oküloektodermal sendromlu bir olgu
11. Ulusal Tıbbi genetik Kongresi, İstanbul, İstanbul, Türkiye, 24 Eylül 2014 - 27 Eylül 2012
Kromozomal yeniden düzenlenmelerde moleküler karyotipleme ile genotip fenotip ilişkisinin belirlenmesi
11. Ulusal Tıbbi genetil Kongresi, İstanbul, Türkiye, 24 - 27 Eylül 2014
Chromosomal abnormalities identifiedin 836 abortions nine years experience
9. Ulusal Tıbbi Genetik Kongresi,İstanbul, 2010., İstanbul, Türkiye, 1 - 05 Aralık 2010
Kitap & Kitap Bölümleri
Akraba evliliklerine genetik yaklaşım
Genetik ve Multidisipliner Yaklaşımlar, Semerci Gündüz CN, Editör, Türkiye Klini, ss.81-84, 2019