Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
Diğer Dergilerde Yayınlanan Makaleler

From Phenotype to Genotype

Gazi Medical Journal , cilt.30, sa.1, ss.1-101, 2019 (Scopus)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

FATCO sendromlu iki olgu

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.1

Kriptooftalminin Eşlik Etmediği Fraser Sendromlu Olguda Yeni Bir Varyant

7. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Türkiye, 26 - 28 Mayıs 2022, ss.143

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

Thauvin-Robinet-Faivre Syndrome: Report of a new patient

53rd European Society of Human Genetics (ESHG), Berlin, Almanya, 6 - 09 Haziran 2020, cilt.28, ss.366 Creative Commons License

Atipik Bulgularla Gelen Bir DiGeorge Sendromu Olgusu

XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Ankara, Türkiye, 30 Ekim - 01 Kasım 2020, cilt.1, sa.37, ss.192 Sürdürülebilir Kalkınma

8p 11.2 delesyonu: FGFR1 ve ANK1 komşu gen sendromu

XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Ankara, Türkiye, 30 Ekim - 01 Kasım 2020, cilt.1, sa.1, ss.205

SHOX gen enhancer heterozigot delesyonuna bağlı Leri Weill Sendromu

XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Ankara, Türkiye, 30 Ekim - 01 Kasım 2020, cilt.1, sa.27, ss.183

NPR2 Heterozigot Mutasyonuna Bağlı Boy Kısalığı

XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Ankara, Türkiye, 30 Ekim - 01 Kasım 2020, cilt.1, sa.23, ss.179

A STUDY FROM TURKEY: IDENTIFICATION OF COPY NUMBER VARIANTS IN CHILDREN AND ADOLESCENTS WITH AUTISM SPECTRUM DISORDER

67th Virtual Annual Meeting of the American-Academy-of-Child-and-Adolescent-Psychiatry (AACAP), ELECTR NETWORK, 12 - 24 Ekim 2020, cilt.59 identifier

Herediter Sapastik Parapleji: 6 olgu sunumu

3. Nöromusküler Hastalıklar Kongresi, İzmir, Türkiye, 1 - 03 Kasım 2019, ss.25 Creative Commons License

A rare etiology of epileptic encephalopathy: HECW2 mutations

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1435 identifier

Dual overlapping phenotype recessively inherited due to paternal unipaternal disomy of chromosome 2 (pUPD2) in a patient

51st Conference of the 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 identifier

A mosaic double aneuploidy: mos 45,X/47,XX,+18/46,XX with mild phenotype

51st Conference of the 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.996 identifier

Copy number variation analysis in autism spectrum disorders

51st Conference of the 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.259 identifier

A new approach (EDIZ) for Big Data Variant Prioritization

13th balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019

A new method for analysis of whole exome sequencing data (SELIM) depending on variant prioritization

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.998 identifier

Duplication of HTR 7 gene in a patient: Is it a possible cause of autism and congenital cataract ?

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.466 identifier

A novel RYR 1 gene mutation in a patient with severe central core disease

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.423-424 identifier

Molecular karyotyping in ten patients with isolated anorectal malformation

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.196 identifier

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

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

5q14 3 delesyonlu yeni bir olgu

12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.268 Creative Commons License

Entellektüel yetersizlik ve veya konjenital anomalisi olan hastalarda array CGH sonuçlarının değerlendirilmesi

12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.261 Creative Commons License

Primer amenoreli olguda array CGH yöntemi ile parsiyel Xp duplikasyonu ve Xq delesyonu saptanması

12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics, Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.131 Creative Commons License

The Relation between micropenis in childhood and CAG with GGN repeat polymorphisms in the androgen reseptor gene

12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.261 Creative Commons License

Sendromik olmayan anorectal malformasyonlu olgularda array CGH sonuçlarının analizi

12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.366 Creative Commons License

BRCA1 ve BRCA2 mutasyonlarının araştırılımasında yeni nesil moleküler yöntem sonuçlarının konvansiyonel dizi analizi yöntemi ile karşılaştırılması

12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.365 Creative Commons License

Sebebi açıklanamayan mental retardasyonlu ve veya dismorfik hastalarda array CGH yöntemi ile submikroskobik kromozomal değişikliklerin araştırılması

12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.258 Creative Commons License

Molecular Cytogenetic Characterization of A Small Supernumerary Marker Chromosome Derived From Chromosome

15. Gevher Nesibe Tıp Günleri 2016 ve Tıbbi Genetik ve Klinik Uygulamaları Kongresi, 11 Mayıs 2017, cilt.38, ss.35-25

Gelişme geriliği ve epilepsisi olan birolguda array CGH sonucu

3. Nörometabolik dismorfoloji sempozyumu, çeşme, Türkiye, 10 - 12 Mart 2016

Approach to the Dysmorphic Patient

Gevher Nesibe Tıp Günleri 2016 "Tıbbi Genetik ve Klinik Uygulamaları Kongresi", Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.3 Creative Commons License

Holoprocencephaly noted in case of Mosaic Trisomy 9 Syndrome

Medical Genetics and Clinical Applications, Erciyes Medical Journal, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.46 Creative Commons License

A New Case with Mosaic Trisomy 19Q

Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.32 Creative Commons License

A Case with 22q11 deletion Syndrome and Anal Anomalies

Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.24 Creative Commons License

Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived from Chromosome 15

Medical genetic and Clinical Applications, Erciyes Medical Journal, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.35 Creative Commons License

The Fifth Family with MACS syndrome

Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.17 Creative Commons License

Mutation Spectrum of the VHL Gene Mutations

Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.14 Creative Commons License

MECP2 Duplication Syndrome with Additional Findings

Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.35 Creative Commons License

A Female Patient with Smith Fineman Myers Syndrome

Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.27 Creative Commons License

Nadir Hastalıklara Yaklaşım

T.C. Sağlık Bakanlığı Ankara Numune Hastanesi “Nadir Hastalıklar Sempozyumu”, Ankara, Türkiye, 29 Şubat 2016

Spotlight on the pathogenesis of Kabuki syndrome

European Human Genetics Conference - ESHG 2015, Glasgow, Scotland, UK, Glasgow, İngiltere, 6 - 09 Haziran 2015 Creative Commons License

T102C and 1438 G A Polymorphisms of The Serotonin 2A Receptor Gene in Etiology and Course of Attention Deficit Hyperactivity Disorder

6th International Congress on Psychopharmacology & 2nd International Symposium on Child and Adolescent Psychopharmacology, Antalya, Türkiye, 16 - 20 Nisan 2014, ss.1

Erken başlangıçlı Cockayne sendromu

2. Nörometabolik Dismorfoloji Sempozyumu, 08 Mart 2013

Radioulnar Sinostoz Amegakaryositik Trombositopenili Bir Aile

10. Ulusal Tıbbi Genetik Kongresi, Bursa, 2012, Bursa, Türkiye, 18 - 22 Aralık 2012, ss.156 Creative Commons License

Oküloektodermal sendromlu bir olgu

11. Ulusal Tıbbi genetik Kongresi, İstanbul, İstanbul, Türkiye, 24 Eylül 2014 - 27 Eylül 2012

Dopamine D4 Receptor Gene and Attention Deficit Hyperactivity Disorder A Follow up Study

International Association for child and adolescent psychiatry and allied professions (IACAPAP) 2012 - 20th World congress, Paris, Fransa, 21 - 25 Temmuz 2012, cilt.60, sa.5, ss.264 Creative Commons License

Microphthalmia

European Biotechnology Congress, İstanbul, Türkiye, 28 Eylül - 01 Ekim 2011, cilt.22 identifier

Three cases with Noonan Syndrome

5th Istanbul Dysmorphology Days İstanbul, İstanbul, Türkiye, 29 - 30 Nisan 2011, ss.28 Creative Commons License

Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, Clinical Genetics, 01 Ekim 2010, cilt.78, ss.15

2q37 delesyonlu bir olgu

Endokrinoloji ve Genetik Sempozyumu, Bolu, Türkiye, 8 - 10 Eylül 2009, ss.107 Creative Commons License

Gastrointestinal side effects of citalopram related with MDR1 gene G2677T polymorphism

8th Congress of the European Associations for Clinical Pharmacology and Therapeutics, Hollanda, 29 Ağustos - 01 Eylül 2007, cilt.101, ss.51-102

Spondylocostal Dysostosis e Eşlik Eden Tip 1 SCM Olgu Sunumu

Türk Nöroşirürji Derneği 21. Bilimsel Kongresi, Türk Nöroşirürji Dergisi, Antalya, Türkiye, 20 - 24 Nisan 2007, cilt.17, ss.87 Creative Commons License

46,XX karyotypes of abortion materials; due to pregnancy losses or maternal cell contamination?

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.36 identifier

A girl with a mosaic ring chromosome 18

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.64-65 identifier

Severe clinical manifestations with inv(3) (p24p13)dn in a girl

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.55 identifier
Kitap & Kitap Bölümleri

Robinow Sendromu: Klinik ve Moleküler Özellikleri

Genetik ve Dismorfoloji- "Balcı Sendromu"- 2022, Semerci Gündüz, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.15-23, 2022 Creative Commons License

İskelet Displazilerinde Tedavi

İskelet Displazileri, İlhan Sezgin, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.90-96, 2019 Creative Commons License

Kılavuzlar Eşliğinde Fetal Konjenital Anomaliler ve İlişkili Olduğu Sendromlar

Dünden Bugüne Prenatal Tanı, Meral Yirmibeş Karaoğuz, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.58-62, 2018 Creative Commons License

Dismorfik hastaya yaklaşım

Tıbbi Genetik ve Klinik Uygulamaları, Munis Dündar, Editör, MGrup Matbacılık Kayseri, Kayseri, ss.649-683, 2016
Metrikler

Yayın

329

Atıf (WoS)

1541

H-İndeks (WoS)

17

Atıf (Scopus)

1623

H-İndeks (Scopus)

18

Atıf (Scholar)

171

H-İndeks (Scholar)

7

Atıf (TrDizin)

7

H-İndeks (TrDizin)

2

Atıf (Diğer Toplam)

13

Proje

35

Tez Danışmanlığı

12

Açık Erişim

40
BM Sürdürülebilir Kalkınma Amaçları