Publications & Works

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.185, no.8, pp.2488-2495, 2021 (Journal Indexed in SCI) identifier identifier identifier

Coronal craniosynostosis due to TCF12 mutations in patients from Turkey

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.179, no.11, pp.2241-2245, 2019 (Journal Indexed in SCI) identifier identifier identifier

Recent Advances in Craniosynostosis

PEDIATRIC NEUROLOGY, vol.99, pp.7-15, 2019 (Journal Indexed in SCI) identifier identifier identifier

Mongolian spots combined with halo-like disappearance surrounding café au lait spots.

Indian journal of dermatology, venereology and leprology, vol.84, no.4, pp.474-477, 2018 (Journal Indexed in SCI Expanded) identifier identifier identifier

Mongolian Spots combined with halo-like disapperance surrounding cafe au lait spots

INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, vol.1, pp.1-3, 2018 (Journal Indexed in SCI Expanded)

Early postoperative follow-up after craniosynostosis surgery

TURKISH JOURNAL OF MEDICAL SCIENCES, vol.48, no.3, pp.584-592, 2018 (Journal Indexed in SCI) Creative Commons License identifier identifier identifier

Bone mineral density in patients with mucopolysaccharidosis type III

JOURNAL OF BONE AND MINERAL METABOLISM, vol.35, no.3, pp.338-343, 2017 (Journal Indexed in SCI) identifier identifier identifier

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.101, no.7, pp.2759-2767, 2016 (Journal Indexed in SCI) identifier identifier identifier

Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.58, no.4, pp.238-242, 2015 (Journal Indexed in SCI) identifier identifier identifier

Bilateral congenital cataracts in an infant with Klinefelter syndrome

TURKISH JOURNAL OF PEDIATRICS, vol.56, no.5, pp.546-550, 2014 (Journal Indexed in SCI) identifier identifier identifier

Infantile Galactosialidosis Presenting With Steroid Resistant Nephrotic Syndrome

PEDIATRIC NEPHROLOGY, vol.29, no.9, pp.1737-1738, 2014 (Journal Indexed in SCI) identifier

Vertigo in Childhood: Evaluation of Clinical and Laboratory Findings

TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, vol.32, no.6, pp.1601-1606, 2012 (Journal Indexed in SCI) Sustainable Development identifier identifier

Articles Published in Other Journals

Poland Syndrome in Childhood: Evaluation of the Clinical Findings

JOURNAL OF PEDIATRIC RESEARCH, vol.3, no.1, pp.30-34, 2016 (Journal Indexed in ESCI) Creative Commons License Sustainable Development identifier

Oral manifestations of a patient with cri du chat (5p-) syndrome

Journal of Pediatric Dentistry, vol.3, no.3, pp.67-70, 2015 (International Refereed University Journal)

Oral manifestations of a patient with Cri du Chat Syndrome

Journal Of Pediatric Dentistry, vol.3, pp.67-70, 2015 (Journal Indexed in ESCI)

Clinical Expression of Primary Ciliary Dyskinesia in Monozygotic Twins: Case Report. 2013; 21(1):13-17.

Turkiye Klinikleri J Case Rep, vol.21, pp.13-17, 2013 (Other Refereed National Journals)

Kortikal Displaziler

Türkiye Klinikleri Pediatrik Bilimler Nörogenetik Özel Sayısı, vol.4, pp.32-38, 2013 (Other Refereed National Journals)

Majör Kromozoma bozukluklar ve konjenital kalp hastalıkları

Türkiye Klinikleri Journal of Pediatr Science, vol.9, no.3, pp.12-15, 2013 (Other Refereed National Journals)

Major kromozomal bozukluklar ve konjenital kalp hastalıkları. Konjenital Kalp Hastalıkları ve Genetik Özel Sayısı

Türkiye Klinikleri Pediatrik Bilimler, vol.9, pp.12-15, 2013 (Other Refereed National Journals)

Dokuz aya kadar yaşayan Meckel Gruber Sendromlu bir olgu

Türkiye Klinikleri J Pediatr, vol.17, pp.55-58, 2008 (Other Refereed National Journals)

Dokuz aya kadar yaşayan Meckel Gruber sendromlu bir olgu

TÜRKİYE KLİNİKLERİ J Pediatr, no.17, pp.55-58, 2008 (Other Refereed National Journals)

Dokuz Aya Kadar Yaşayan Meckel Gruber Sendromlu Bir Olgu

Türkiye Klinikleri Journal Pediatri, vol.17, no.1, pp.55-58, 2008 (Other Refereed National Journals)

Topikal steroid kullanımına bağlı gelişen iatrojenik Cushing sendromu: İki vakanın takdimi

ÇOCUK SAĞLIĞI VE HASTALIKLARI DERGİSİ, vol.50, pp.125-128, 2007 (Other Refereed National Journals)

Refereed Congress / Symposium Publications in Proceedings

Paternal Uniparental Dizomiyle Ortaya Çıkan Angelman Sendromlu Olgu

XVII. TIBBİ BİYOLOJİ ve GENETİK KONGRESİ, Turkey, 28 - 31 October 2021, vol.52, pp.328-329

Tromboemboli nedeni ile başvuran geç tanı alan homosistinürili bir olgu",

III. Ulusal Çocuk Acil Tıp ve Yoğun Bakım Kongresi, İstanbul, Turkey, pp.418

Nekrotizan Pnömoni ile tanı alan Kronik Granülomatöz Hastalıklı bir olgu sunumu

XIV.Ulusal Allerji ve Klinik İmmunoloji Kongresi, Antalya, Turkey, pp.107

Nonketotik hiperglisinemi: İki olgu sunumu

55. Türkiye Milli Pediatri Kongresi, Antalya, Turkey, pp.249

Klinefelter Sendromu ve Konjenital Katarakt Birlikteliği

10. Tıbbi Genetik Kongresi, Bursa, Turkey, pp.253

The diagnosis and the clinical features of a rare disesase; Alpha-mannosidosis.

European Society of Human Genetics (ESHG) Conference, Germany, pp.13

Poland Sendromlu Hastalarımızın Klinik Bulguları.

Türk Pediatri Kongresi, Antalya, Turkey, pp.83

Hallermann-Streiff sendromu: Olgu sunumu.

Türk Pedodonti Derneği Kongresi, Antalya, Turkey, pp.116

Coeliac disease in Williams syndrome.

European Society of Human Genetics (ESHG) Conference,, Italy, pp.150

Çocukluk çağında vertigo

55. Türkiye Milli Pediatri Kongresi, Antalya, Turkey, pp.140

Mesomelic dysplasia mimicking Roberts Syndrome.

26th European Congress of Pathology, United Kingdom, pp.38

Tromboemboli nedeniyle başvuran ve geç tanı alan Homosistinürili bir olgu

III. Ulusal Çocuk Acil Tıp ve Yoğun Bakım Kongresi, İstanbul, Turkey, pp.61

Mukopolisakkaridoz tip IIIC ve ağır osteoporoz birlikteliği: Olgu sunumu

III. Uluslararası Katılımlı Lizozomal Depo Hastalıkları Kongresi, Antalya, Turkey, pp.40

Infantile galactosialidosis presenting with steroid resistant nephrotic syndrome.

European Society for Paediatric Nephrology (ESPN) Meeting, Portugal, pp.1737

Final diagnosis in children with subclinical hypothyroidism, preliminary results

European Society for Paediatric Endocrinology (ESPE) Conference,, Netherlands, pp.707

Çölyak hastalığı nedeniyle tanı alan Williams sendromu.

9. Ulusal Çocuk Gastroenteroloji Hepatoloji ve Beslenme Kongresi, Antalya, Turkey, pp.32

İntestinal psödoobstrüksiyonun nadir bir nedeni: Mitokondriyal nörogastrointestinal ensefalomiyopati.

9. Ulusal Çocuk Gastroenteroloji Hepatoloji ve Beslenme Kongresi, Antalya, Turkey, pp.59

Galaktosiyalidoz Tanısı Alan Bir Olguda Steroid Dirençli Nefrotik Sendrom.

IV. Uluslararası Katılımlı Lizozomal Depo hastalıkları kongresi, Antalya, Turkey, pp.78

Belirgin Bir Fenotipe Neden Olmayan 4q35.1-4q35.2 Delesyonuna Sahip Bir Aile Sunumu.

11. Ulusal Tıbbi Genetik Kongresi, İstanbul, Turkey, pp.114

Nadir Kromozomal bir bozukluk: İzokromozom 18p’li Beş Olgu Sunumu

1. Ulusal Çocuk Genetik Sempozyumu, İzmir, Turkey, pp.79

Yenidoğanda spontan bakteriyel peritonit:Olgu sunumu.

55. Türkiye Milli Pediatri Kongresi, Antalya, Turkey, pp.250

Nadir Bir Olgu:Bruck Sendromu

18. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Bursa, Turkey, pp.131

Kraniyosinostozisli hastalarda FGFR2 genotip-fenotip ilişkisi

1. Ulusal Çocuk Genetik Sempozyumu, İzmir, Turkey, pp.27

Muir-Torre sendromu: Olgu Sunumu

7. Ege Dermatoloji Günleri, İzmir, Turkey, pp.55

Neonatal Tip Multiple Sülfataz Eksikliği Olgusu

2. Nörometabolik Dismorfoloji Sempozyumu, İstanbul, Turkey, pp.31

Mucolipidosis II presenting with rickets-like features in a newborn.

European Society of Human Genetics (ESHG) Conference, Italy, pp.15

Nonphotosensitive trichothiodystrophy: a report of two male sibs

7th World Congress for Hair Research, Journal of Investigative Dermatology, United Kingdom, pp.140

Ailesel Williams-Beuren Sendromu ve Endokrin Sorunları

16. Ulusal Pediatrik Endokrin ve Diyabet Kongresi, Samsun, Turkey, pp.158

Prenatal Diagnostic Approach to Fetal Skeletal Dysplasia

25th European Congress of Pathology, Portugal, pp.10

Kabuki Syndrome: Clinical features of twenty-two patients.

American Collage of Medical Genetics (ACMG) Annual Clinical Genetics Meeting, United States Of America, pp.154

Clinical Features in 17 patients with Mucopolysaccharidosis.

European Society of Human Genetics (ESHG) Conference, Germany, pp.34

KYNURENINASE DEFICIENCY CAUSES CATEL-MANZKE-LIKE SYNDROME

41st Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), Washington, United States Of America, 6 - 09 April 2019, vol.126, pp.298-299 identifier

A de novo ins(21;13) and two interstitial deletions in 13q in a boy with multple congenital anomalies

11th European Cytogenetics Conference, Haziran 1-7, 2017, Molecular Cytogenetics 2017, 10(Suppl 1):20, Floransa, Italy, 01 June 2018 - 07 April 2017, pp.20

Evaluations of cranio-facial and dental manifestations of ten Turkish patients with Kabuki Syndrome

8th International Congress of mediterranean Societies of Pediatric Dentistry, İstanbul, Turkey, 13 - 15 November 2017, pp.107

Osteogenezis İmperfekta hastalarında dental yaklaşım: 3 olgu

Türk Pedodonti Derneği 24.Bilimsel Kongresi, Antalya, Turkey, 19 - 22 October 2017, pp.308-309

Osteogenezis İmperfekta hastalarında dental yaklaşım: 3 olgu

Türk Pedodonti Derneği 24.Bilimsel Kongresi, Antalya, Turkey, 19 - 22 October 2017, pp.308-309

Osteogenezis İmperfekta hastalarında dental yaklaşım: 3 olgu

Türk Pedodonti Derneği 24.Bilimsel Kongresi, Antalya, Turkey, 19 - 22 October 2017, pp.308-309

Osteogenezis İmperfekta hastalarında dental yaklaşım: 3 olgu

Türk Pedodonti Derneği 24.Bilimsel Kongresi, Antalya, Turkey, 19 - 22 October 2017, pp.308-309

Osteogenezis İmperfekta hastalarında dental yaklaşım: 3 olgu

Türk Pedodonti Derneği 24.Bilimsel Kongresi, Antalya, Turkey, 19 - 22 October 2017, pp.308-309

Williams-Beuren Sendromu tanılı olguda diyete sekonder osteoporoz

XX. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 6 - 09 October 2016, pp.86

Nadir bir kromozomal anomali: Ring kromozom 6

XII. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 5 - 09 October 2016, pp.227-228

Nadir bir olgu olarak Pfeiffer Sendromu

XII. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 5 - 09 October 2016, pp.311

Nadir Bir Kromozomal Anomali: Ring Kromozom 6

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 5 - 09 October 2016, pp.227-228

Nadir Bir Kromozomal Anomali: Ring Kromozom 6

12. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 5 - 09 October 2016, pp.227-228

Nadir bir olgu olarak Pfeiffer Sendromu

XII. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 5 - 09 October 2016, pp.311

Nadir bir olgu olarak Pfeiffer Sendromu

XII. Ulusal Tıbbi Genetik Kongresi, İzmir, Turkey, 5 - 09 October 2016, pp.311

Diagnostic approach of congenital urinary malformations: Multicentric autopsy cases performed between 2000–2015 in Antalya

XXX1. International Congress of the IAP and 28th Congress of ESP, Köln, Germany, 25 - 29 September 2016, pp.186

Clinical features and follow-up findings of Williams Beuren syndrome patients

European Society of Human Genetics (ESHG), Baercelona, Spain, 21 - 24 May 2016, pp.649

An infant with a ring chromosome 11 and 11q24 deletion

European Society of Human Genetics (ESHG), Barselona, Spain, 21 - 24 May 2016, pp.335

An infant with a ring chromosome 11 and 11q24 deletion

European Society of Human Genetics (ESHG), Barselona, Spain, 21 - 24 May 2016, pp.335

İnfantil spazm nedeniyle tanı alan Miller Dieker sendromu olgusu

52. Türk Pediatri Arşivi, Antalya, Turkey, 15 - 19 May 2016, pp.92

Chanarin Dorfman sendromu: genotip-fenotip ilişkisi

3. Nörometabolik Dismorfoloji Sempozyumu, İstanbul, Turkey, 10 - 12 March 2016, pp.238-242

Van der Woude sendromlu iki aile sunumu.

59. Milli Pediatri Kongresi, Antalya, Turkey, 4 - 08 November 2015, pp.34

Mukopolisakkaridoz Tip III hastalarında kemik mineral yoğunluğu

II. Ulusal Çocuk Genetik Sempozyumu, Samsun, Turkey, 22 - 24 October 2015, pp.38

İniensefali ve nöral tüp defekti birlikteliği olan Jarcho-Levin sendromlu bir fetus

II. Ulusal Çocuk Genetik Sempozyumu, Samsun, Turkey, 22 - 24 October 2015, pp.72

Management of generalized gingival fibromatosis in a case with Frank-Ter Haar syndrome

47 TH MEETING OF THE CONTINENTAL EUROPEAN DIVISION OF THE INTERNATIONAL ASSOCIATION FOR DENTAL RESEARCH, Antalya, Turkey, 15 - 17 October 2015, pp.251-268

Clinical and molecular study of a series of 31 patients with chondrodysplasia with multiple dislocations

12 th ISDS MEETING ISTANBUL 2015, İstanbul, Turkey, 29 July - 01 August 2015, pp.132-133

Evaluation of ten Poland sequence patients with their clinical findings

American Collage of Medical Genetics (ACMG) Annual Clinical Genetics Meeting, Salt Lake City, United States Of America, 23 - 28 March 2015, pp.271

ALPL geninde homozigot mutasyon saptanan bir infantil Hipofozfatazya olgusu.

1. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, Doi:10.4274/jcrpe, İzmir, Turkey, 25 - 27 February 2015, pp.22

ALPL geninde homozigot mutasyon saptanan bir infantil Hipofozfatazya olgusu.

1. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, Doi:10.4274/jcrpe, İzmir, Turkey, 25 - 27 February 2015, pp.22

Management of generalized gingival fibromatosis in a case with Frank-Ter Haar syndrome. 47th Meeting of Continental

European Division of the International Association for Dental Research, Antalya, Turkey, 15 January 2015 - 17 January 2017, pp.251

Cri du Chat sendromu

21.Türk Pedodonti Derneği Kongresi, İstanbul, Turkey, 13 - 15 November 2014, pp.1

EVALUATIONS OF CRANIO-FACIAL AND DENTAL MANIFESTATIONS OF TEN TURKISH PATIENTS WITH KABUKI SYNDROME.

8th International Congress of Mediterranean Societies of Pediatric Dentistry & 21st Congress of Turkish Society of Pediatric Dentistry, İstanbul, Turkey, 13 - 15 November 2014

EVALUATIONS OF CRANIO-FACIAL AND DENTAL MANIFESTATIONS OF TEN TURKISH PATIENTS WITH KABUKI SYNDROME.

8th International Congress of Mediterranean Societies of Pediatric Dentistry & 21st Congress of Turkish Society of Pediatric Dentistry, İstanbul, Turkey, 13 - 15 November 2014

EVALUATIONS OF CRANIO-FACIAL AND DENTAL MANIFESTATIONS OF TEN TURKISH PATIENTS WITH KABUKI SYNDROME.

8th International Congress of Mediterranean Societies of Pediatric Dentistry & 21st Congress of Turkish Society of Pediatric Dentistry, İstanbul, Turkey, 13 - 15 November 2014

CLINICAL EXPRESSION OF FAMILIAL WILLIAMS BEUREN SYNDROME IN A TURKISH FAMILY

53rd ANNUAL MEETING EUROPEAN SOCIETY FOR PAEDIATRIC ENDOCRINOLOGY, 18 - 20 September 2014

Infantile Galactosialidosis Presenting with Steroid Resistant Nephrotic Syndrome

47th Annual Scientific Meeting of the European Society for Pediatric Nephrology, Porto, Portugal, 18 - 20 September 2014, pp.1737

Mesomelic dysplasia mimicking Robert's syndrome

26th European Congress of Pathology, Londra, United Kingdom, 30 August - 03 September 2014, vol.465, pp.202

Infantile Galactosialidosis Presenting With Steroid Resistant Nephrotic Syndrome

47th Annual Scientific Meeting of the European Society for Paediatric Nephrology, Porto, Portugal, 17 - 20 September 2014, vol.29, pp.1649-1867 Creative Commons License

Mesomelic dysplasia mimicking Robert’s Syndrome.

Virchows Archiv, Londra, United Kingdom, 1 - 05 August 2014, pp.202

“Cystic fibrosis transmembrane regulator mutations in Turkish patients with cystic fibrosis.”

37th European Cyctic Fibrosis Conference, Gothenburg, Sweden, 11 - 14 June 2014, vol.0, no.0, pp.1-3

Mucolipidosis II presenting with rickets –like features in a newborn

European Human Genetics Conference 2014, Milan, Italy, 31 May - 03 June 2014, pp.415

Coeliac disease in Williams syndrome

European Human Genetics Conference 2014, Milan, Italy, 31 May - 03 June 2014, pp.236

Bir Olguda Prader Willi Sendromu ve FSGS Birlikteliği

30. Ulusal Nefroloji, Hipertansiyon, Dyaliz ve Transplantasyon Kongresi, Antalya, Turkey, 13 - 17 November 2013, vol.22

Prenatal Diagnostic approach to fetal skeletal dysplasia

25th European Congress of Pathology, Lizbon, Portugal, 31 August - 04 September 2013, vol.463, no.2, pp.184

Prenatal diagnostic approach to fetal skeletal dysplasia

25 th European Congress of Pathology, Lizbon, Portugal, 31 August - 04 September 2013, vol.463, no.2, pp.184

Prenatal diagnostic approach to fetal skeletal dysplasia

25th European Congress of Pathology, Lisbon, Portugal, 31 August - 04 September 2013, pp.184

Prenatal Diagnostic approach to fetal skeletal dysplasia

25th European Congress of Pathology, Lizbon, Portugal, 31 August - 04 September 2013, vol.463, no.2, pp.184

Kabuki Syndrome: Clinical Features of Twenty two Patients

ACMG ANNUAL CLINICAL GENETICS MEETING 2013, Phoenıx, United States Of America, 19 - 23 March 2013, pp.154

Klinefelter Sendromu ve Konjenital Katarakt Birlikteliği

10. Ulusal Tıbbi Genetik Kongresi, Bursa, Turkey, 19 - 23 December 2012, pp.274

Klinefelter Sendromu ve Konjenital Katarakt Birlikteliği

10. Ulusal Tıbbi Genetik Kongresi, Bursa, Turkey, 19 - 23 December 2012, pp.274

AİLESEL WİLLİAMS BEUREN SENDROMU VE ENDOKRİN SORUNLARI

16. ULUSAL PEDİATRİK ENDOKRİN VE DİYABET KONGRESİ, Turkey, 6 - 10 November 2012

Hallerman-Streiff Sendromu: Olgu Sunumu.

19. Türk Pedodonti Derneği Kongresi, Belek-ANTALYA, Antalya, Turkey, 4 - 07 October 2012, pp.165

Hallerman-Streiff Sendromu: Olgu Sunumu.

19. Türk Pedodonti Derneği Kongresi, Belek-ANTALYA, Antalya, Turkey, 4 - 07 October 2012, pp.165

Hallerman-Streiff Sendromu: Olgu Sunumu.

19. Türk Pedodonti Derneği Kongresi, Belek-ANTALYA, Antalya, Turkey, 4 - 07 October 2012, pp.165

Clinical features in 17 patients with mucopolysaccharidosis

European Human Genetics Conference 2012, Nürnberg, Germany, 23 - 26 June 2012, pp.349

Final diagnosis in children with subclinical hypothyroidism, preliminary results.

46th Annual Meeting of the European Society for Paediatric Endocrinology, Helsinki, Finland, 27 - 30 June 2007, vol.68, pp.219

Books & Book Chapters

Çoklu Konjenital Anomali Sendromları

in: PEDİATRİ (Yurdakök), Yurdakök M., Editor, Güneş Tıp Kitabevi, Ankara, pp.2003-2017, 2017

Other Publications