Publications & Works

Articles 91
All (91)
SCI-E, SSCI, AHCI (76)
SCI-E, SSCI, AHCI, ESCI (85)
ESCI (8)
Scopus (81)
TRDizin (16)
Other Publications (1)
Papers Presented at Peer-Reviewed Scientific Conferences 162

2. Role of MUTYH gene variants in the etiology of recurrent pregnancy loss

57th European Society of Human Genetics (ESHG) Conference, Berlin, Germany, 01 June 2024, vol.32, pp.1298, (Summary Text) identifier identifier

3. Association of TIRAP gene polymorphisms with neuroinflammatory diseases

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Germany, 1 - 04 June 2024, vol.32, pp.1082, (Summary Text) identifier

4. Step-by-Step Genetic Insight into a Case of Growth Retardation

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Germany, 1 - 04 June 2024, vol.32, pp.1559, (Summary Text) identifier

6. Investigation of the genetic etiology of short stature

European Human Genetics Conference, Berlin, Germany, 1 - 04 June 2024, pp.1, (Full Text) Creative Commons License

7. Investigation of genetic etiology in familial CAKUT cases

European Human Genetics Conference, Berlin, Germany, 1 - 04 June 2024, pp.1, (Full Text) Creative Commons License

9. Gross deletion in KIF11: A de novo occurrence

European Human Genetics Conference, Berlin, Germany, 1 - 04 June 2024, pp.1, (Full Text) Creative Commons License

13. INVESTIGATION OF SHOX GENE MUTATIONS

14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023, Skopje, Macedonia, 5 - 07 October 2023, pp.91, (Summary Text)

14. A NOVEL SPLICE SITE VARIANT IN FLNA GENE IDENTIFIED IN THREE SIBLINGS AFFECTED WITH MULTIPLE CONGENITAL ANOMALIES

14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023, Skopje, Macedonia, 5 - 07 October 2023, pp.100, (Summary Text)

15. A CASE WITH SPINOCEREBELLAR ATAXIA TYPE 10

14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023, Skopje, Macedonia, 5 - 07 October 2023, vol.26, pp.87, (Summary Text)

17. Undiagnosed arthrogryposis: further expanding the molecular and phenotypic spectrum

European Human Genetics Conference, Glasgow, England, 10 - 13 June 2023, vol.31, pp.101, (Summary Text)

21. KLEİDOKRANİAL DİSPLAZİ: KLİNİK, RADYOGRAFİK, GENETİK BULGULAR VE TEDAVİ PLANI DEĞERLENDİRMESİ

2. Uluslararası Erciyes Üniversitesi Diş Hekimliği Kongresi, Kayseri, Turkey, 23 - 25 February 2023, pp.203-204, (Summary Text)

22. Evaluation of Genetic Etiology in Children Born Small for Gestational Age with Persistent Short Stature

60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Roma, Italy, 15 - 17 September 2022, pp.313, (Summary Text)

24. Osteogenezis Imperfekta Tanılı 15 Olgunun Moleküler Sonuçları

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.149, (Summary Text) Creative Commons License

27. Birden Fazla Etkilenmiş Olgu Bulunan Ailelerde Tüm Ekzom Dizileme Yönteminin Tanıdaki Etkinliği

15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Turkey, 9 - 13 November 2022, pp.116, (Summary Text)

29. Investigation of Genes Associated with Multiple Pituitary Hormone Deficiencies via Next Generation Sequencing Technology

60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Roma, Italy, 15 September 2022, (Full Text)

30. Diagnostic Usefulness of Whole Exome Sequence Analysis in cases with suspected mitochondrial disease: Single center experience

XVI. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Hatay, Turkey, 28 May - 01 June 2022, pp.144-146, (Full Text)

37. Nadir Hastalıkların Tanı ve Takibinde Biyokimyasal Testlerin Tamamlayıcı Rolü: Olgu Sunumu

Uluslararası Laboratuvar Tıbbı ve XX.Ulusal Klinik Biyokimya Kongresi, İstanbul, Turkey, 25 - 26 December 2020, pp.1, (Summary Text)

38. MECP2 Spektrumundan Etkilenmiş 27 Olgunun Klinik ve Moleküler Bulguları

14.Ulusal Tıbbi Genetik Kongresi "Uluslararası Katılımlı", çevrimiçi, Turkey, 20 - 22 November 2020, vol.31, no.4, pp.53, (Summary Text) Creative Commons License

39. Alport sendromlu 15 olgunun klinik ve moleküler bulguları

14. TIBBİ GENETİK KONGRESİ, İstanbul, Turkey, 20 - 22 December 2020, vol.31, no.4, pp.49, (Summary Text) Creative Commons License

41. Mitokondriyal Hastalıklara Bütünsel Yaklaşım: Beş Aile Örneği

14. ULUSAL TIBBİ GENETİK KONGRESİ, ONLINE, Turkey, 20 - 22 November 2020, vol.31, pp.45, (Summary Text)

43. A case report of a rare nonsense ZP1 variant in a patientwith oocyte maturation defect

European Human Genetics Conference 2020, Glasgow, England, 6 - 09 June 2020, vol.28, pp.155-156, (Summary Text)

51. Genotype-Phenotype Correlation and Clinical Findings in 145 Patients with Congenital Adrenal Hyperplasia: Single Centre Experience

58 th Annual Meeting European Society for Paediatric Endocrinology (ESPE), Vienna, Austria, 20 - 22 September 2019, vol.1, no.1, pp.282, (Summary Text) Sustainable Development

52. Clinical phenotype and genotype association in patients with 21-hydroxylase deficiency

58th Annuel Meeting of the European Society for Paediatric Endocrinology /ESPE), Vienna, Austria, 19 - 21 September 2019, vol.1, no.1, pp.361, (Summary Text)

53. Novel variants in DHH gene identified with 46,XY gonadal dysgenesis

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, pp.1250-1251, (Summary Text) identifier

54. Four Patients with Lamb2 Gene Mutation and Four Different Clinical Cases.

18th Congress of the International Pediatric Nephrology Association, Venice, Italy, 17 - 21 October 2019, vol.34, pp.2174, (Summary Text)

56. Targeted Panel Gene Sequencing for Identification of Genetic Etiology of 46, XY Disorders of Sex Development

European Society for Paediatric Endocrinology (ESPE), Basel, Switzerland, 20 - 22 September 2019, pp.193, (Full Text)

58. Genetic Evaluation of Idiopathic Short Stature

European Society for Paediatric Endocrinology (ESPE)58th Annual Meeting, 6 - 08 September 2019, (Summary Text) Creative Commons License

59. The Clinical Features and Effect of Growth Hormone Treatment in 3-M Syndrome Cases with Severe Growth Retardation

58th Annual Meeting of European Society for Paediatric Endocrinology (ESPE), Vienna, Austria, 19 - 21 September 2019, vol.1, no.1, pp.452, (Summary Text)

60. Assesment of candidate genes in patients with frontotemporal lobar degeneration spectrum: preliminary findings

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.277-278, (Summary Text) identifier

61. Diagnostic contribution of in house designed next generation sequencing panel gene test for Disorders of Sexual Development from Turkey

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.79-80, (Summary Text) identifier

62. LAMB2 Gen Mutasyonu Saptanan Dört Hasta Ve Dört Farklı Klinik Durum

Uluslararası Katılımlı 10. Çocuk Nefroloji Kongresi, Muğla, Turkey, 1 - 04 May 2019, pp.158, (Summary Text)

64. Boy Kısalığının Genetik Etiyolojisinin Araştırılması

XXIII Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, Antalya, Turkey, 17 - 21 April 2019, (Summary Text)

67. Clinical Spectrum of Mitochondrial Diseases

13th Balkan Congress of Human Genetics, Edirne, Turkey, 17 - 20 April 2019, vol.22, (Summary Text)

68. Nephrotic Syndrome and Genetics

Erciyes Medical Genetics Days 2019, Kayseri, Turkey, 21 - 23 February 2019, vol.41, no.1, pp.5, (Summary Text)

69. 3M Sendromlu iki oılguda CUL7 geninde saptanan üç yeni varyant

13. “Uluslararası Katılımlı” Ulusal Tıbbi Genetik Kongresi., Antalya, Turkey, 7 - 11 November 2018, vol.1, no.1, pp.272, (Summary Text)

70. Tüm Ekzom Dizilemenin Zayıf Noktaları

13. “Uluslararası Katılımlı” Ulusal Tıbbi Genetik Kongresi. , Antalya, Turkey, 7 - 11 November 2018, vol.1, no.1, pp.31, (Summary Text)

71. Patolojik ultrason bulgulu fetuslarda PTPN11 gen analiz sonuçları

Türkiye Maternal Tıp ve Perinatoloji Derneği XI. Ulusal Kongresi., İstanbul, Turkey, 31 October - 03 November 2018, vol.1, no.1, pp.1, (Summary Text)

72. Clinical and molecular findings in Turkish patients with MPS IV

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.300, (Summary Text) identifier

73. 32 novel pathogenic sequence variants in 253 DMD/BMD patients from Turkey

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.428-429, (Summary Text) identifier

74. Mutation spectrum of Fanconi anemia associated genes in eleven patients from Turkey

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.468-469, (Summary Text) identifier

75. Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations

57th Annual Meeting of the European Society for Paediatric Endocrinology, Atina, Greece, 27 - 29 September 2018, pp.558, (Full Text)

76. Clinical, Laboratory and Molecular Genetic Findings of Patients with 17ß-Hydroxysteroid Dehydrogenase 3 Deficiency

. 57th Annual Meeting of the European Society for Paediatric Endocrinology, Atina, Greece, 27 - 29 September 2018, pp.560, (Full Text)

81. Moleküler sitogenetik tanı deneyimleri

Kişiselleştirilmiş Tıp ve Moleküler Tanı Sempozyumu ve Biyoinformatik Analizlerin Simülasyon Kursu, İstanbul, Turkey, 31 October - 03 November 2018, vol.1, no.1, pp.18, (Summary Text)

86. Genetic Investigation in Parkinson Disease

ERCIYES MEDICAL GENETICS DAYS, Turkey, 7 - 10 March 2018, no.1, (Summary Text)

88. GALT mutation spectrum including four novel alterations in Turkish Cases With Galactosemia

Erciyes Medical Genetics Days 2018, Kayseri, Turkey, 7 - 10 March 2018, vol.1, no.1, pp.46, (Summary Text)

89. PrimerKoenzim Q10 eksikliği-6 (COQ10D6), Olgu Sunumu

4. Çocuk Nefroloji Olgu Panayırı, Turkey, 3 - 04 November 2017, (Summary Text)

90. A rare cause of congenital adrenal hyperplasia: Clinical and genetic findings and follow-up of six patients with 17 hydroxylase deficiency.

10 th International Meeting of Pediatric Endocrinology, Washington, Kiribati, 14 - 17 September 2017, vol.88, pp.457-458, (Summary Text) identifier identifier

91. ”Primary coenzyme Q10 deficiency-6 (COQ10d6): case report ”

50th ESPN meeting, GLASCOW, England, 6 - 09 September 2017, vol.32, pp.1763, (Summary Text) identifier identifier

94. 32 novel pathogenic sequence variants in 253 DMD/BMD patients from Turkey

. European Human Genetics Conference, May 27-30, 2017, Copenhagen, Denmark., 27 - 30 May 2017, (Summary Text)

95. Mutation spectrum of Fanconi Anemia associated genes in eleven patients from Turkey

50. European Society of Human Genetics (ESHG) Conference, 2017, Denmark, 27 - 30 May 2017, (Summary Text)

96. Clinical and molecular findings in Turkish patients with MPSIV

50. European Society of Human Genetics (ESHG) Conference, 2017, Denmark, 27 - 30 May 2017, (Summary Text)

98. Nadir görülen konjenital adrenal hiperplazi nedeni: 17-hidroksilaz eksikliği tanılı vakalarımızın klinik ve genetik bulguları, izlem özellikleri.

XXI. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, 2017, Antalya, Turkey, 26 - 30 April 2017, vol.1, no.1, pp.61, (Summary Text)

99. 46, XY Cinsiyet Gelişim Bozukluğu olan Dört Olguda AR ve SRD5A2 Geninde Yeni Mutasyonlar

2. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Turkey, 23 - 25 February 2017, pp.1, (Full Text)

101. Klinik NGS (YND) Uygulamalarında Ion Torrent

5. Course in Next Generation Sequencing, Turkey, 4 - 07 May 2016, (Summary Text)

102. Klinik NGS Uygulamalarında Ion Torrent

5. Next Generation Sequencing Hibrid Kurs , İstanbul, Turkey, 4 - 07 May 2016, vol.1, no.1, pp.1, (Summary Text)

103. Nonklasik konjenital adrenal hiperplazi hastalarının genotip ve fenotip özellikleri

38. Pediatri Günleri ve 17. Pediatri Hemşireliği Günleri, İstanbul, Turkey, 3 - 06 April 2016, vol.1, no.1, pp.95, (Summary Text)

106. Erken Başlayan Alzheimer Hastalığında PSEN1 ve APP Gen Mutasyonlarının Araştırılması.

Uluslararası katkılı ‘Gevher Nesibe Günleri 2016, Kayseri, Turkey, 11 - 13 February 2016, pp.36, (Summary Text)

108. CYP11B1 gene mutations in patients congenital adrenal hyperplasia in Turkey

54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Barcelona, Spain, 30 September - 03 October 2015, vol.84, no.1, pp.315, (Summary Text)

109. Multiple Pituitary Hormone Deficiency Associated with Pituitary Hyperplasia: A Case Repor

1.Ege Endocrinology and Genetic Symposium, İstanbul, Turkey, 25 - 27 February 2015, vol.7, no.56, pp.81, (Summary Text)

110. Homozygous and Compound Hetrozygous Mutation in 3 Turkish Family with Jervell and Lange-Nielsen Syndrome

European Human Genetics Conference 2015, Glasgow, United Kingdom, 6 - 09 June 2015, vol.1, no.1, pp.122-123, (Summary Text)

111. CYP21A2 gene aberrations in patients with non classical congenital adrenal hyperplasia

Endocrine Society’s 97th Annual Meeting and Expo, San Diego, United States Of America, 5 - 08 March 2015, no.1

113. Training Curse on Haemoglobin Disorders Laboratory Daignosis and Clinical Management

European School of Haematology. Training Curse on Haemoglobin Disorders: Laboratory Daignosis and Clinical Management, Barselona, Spain, 23 - 24 January 2015

114. Genotype and phenotype charasterictics of patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

53 rd Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Dublin, Ireland, 18 - 20 September 2014, vol.82, no.1, pp.176-177, (Summary Text) identifier identifier

115. Clinical features and genetic analyses of type III hereditary angioedema patients

European-Academy-of-Allergy-and-Clinical-Immunology Congress, Copenhagen, Denmark, 7 - 11 June 2014, vol.69, pp.483-484, (Summary Text) identifier

117. Molecular Diagnostic Algorithm of Syndromic Craniosynostosis

European Human Genetics. Conference 2014, Milan, Italy, 31 May - 03 June 2014, vol.22, no.1, pp.215, (Summary Text)

118. HBB gene mutation spectrum of beta-thalasemia patients from Turkey

European Human Genetics Conference 2014, Milan, Italy, 31 May - 03 June 2014, vol.22, no.1, pp.140, (Summary Text)

119. HBB gene mutation spectrum of beta-thalasemia patients from Turkey.

European Human Genetics Conference 2014, Milan, Italy, 31 May - 03 June 2014, vol.22, no.1, pp.140, (Summary Text)

120. Homozygous SHOX gene deletion detected by array CGH in a girl with langer mesomelic dysplasia

European Human Genetics Conference 2014, Milan, Italy, 31 May - 03 June 2014, vol.22, no.1, pp.404, (Summary Text)

121. Joubert sendromu tanılı olguda çoğul hipofiz hormon eksikliği

Çocuk Endokrinolojisi Olgu Sunumları-6, , 2014, İzmir, Turkey, 18 - 19 April 2014, vol.1, no.1, pp.6, (Summary Text)

122. Prematür Ovarian Yetmezliği olan 181 kadında sitogenetik analiz sonuçları

Erişkin Yaşta Görülen Genetik Hastalıklar Sempozyumu 2013, İstanbul, Turkey, 6 - 07 December 2013, vol.1, (Summary Text)

123. Prematür Ovarian Yetmezliği olan kadında sitogenetik analiz sonuçları

Erişkin Yaşta Görülen Genetik Hastalıklar Sempozyumu, 2013, İstanbul, Turkey, 6 - 07 December 2013, vol.1, no.1, pp.30, (Summary Text)

124. Tip III Herediter Anjiödem Hastalarının Klinik ve Genetik Özelliklerinin Analizi

XX. Ulusal Allerji ve Klinik immunoloji Kongresi, Antalya, Turkey, 2 - 06 November 2013, pp.51, (Full Text)

126. Molecular Test Results of Syndromic Craniosynostosis Patients: genotype-phenotype correlations

European Human Genetics Conference 2013, Paris, France, 8 - 11 June 2013, vol.21, no.1, pp.99, (Summary Text)

131. Microcephaly and Blepharophimosis in a girl with 46,XX,ins(6;3)(q23;q27q21)

European Human Genetics Conference 2012, Nuremberg, Germany, 23 - 26 June 2012, vol.20, no.1, pp.121, (Summary Text)

134. How toapproach lissencephaly/subcortical band heterotopia spectrum.

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Turkey, 1 - 05 December 2010, vol.78, pp.13, (Full Text)

135. Identification Of 18q12.2-q21.1 Deletion : A case Report

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, Turkey, 1 - 05 December 2010, vol.78, pp.37, (Summary Text)

136. A Case With Duplication 2q

. 9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.37, (Summary Text)

137. A Case With Terminal Deletion On Long Arm Of Chromosome 1

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.36-37, (Summary Text)

138. Molecular analysis of the PROP1 gene in the cohort of Turkish patients with Combined Pituitary Hormone Deficiency

9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.96, (Summary Text)

139. Novel De Novo Splice Site Mutation İn EFNB1 Gene Cause Craniofrontonasal Syndrome

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.25, (Summary Text)

140. A Identification Of 18q12.2-q21.1 Deletion : A case Report

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.37, (Summary Text)

141. A Case Report With A Rare 8p Duplication

9th National Medical Genetics Congress of Turkish Medical Society with international Participation, 2010, İstanbul, Turkey, 1 - 05 December 2010, vol.78, no.1, pp.37, (Summary Text) Sustainable Development

143. Moebius sendromu ile 13q11.2-q13.3 kromozomal bölgesi ilişkisinin delesyon haritalaması yöntemi ile incelenmesi

8. uluslararası katılımlı Ulusal Genetik Kongresi, 2008, Çanakkale, Turkey, 6 - 09 May 2008, vol.1, no.1, pp.198, (Summary Text)

144. Unusual prenatal case with multiple marker chromosomes

6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.127, (Summary Text) identifier

145. Case presentation: the pregnancy of a Down syndrome mother

6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.126, (Summary Text) identifier

148. Doğal ve ICSIgebelik kayıplarında kromozom anomalileri

VIl. Ulusal Tıbbi Genetik Kongresi, Kayseri, Turkey, 17 - 20 May 2006, pp.77, (Full Text)

149. 45,X[9]/46,X,idic(Y)(q11.2)[36] Karyotipine Sahip Bir Olgu

VIl. Ulusal Tıbbi Genetik Kongresi, Kayseri, Turkey, 17 - 20 May 2006, pp.72, (Full Text)

150. Biyokimyasal Tarama Testlerinde Amniyotik Sıvıda Saptanan Kromozom Anomalileri

VIl. Ulusal Tıbbi Genetik Kongresi. 2006, Kayseri, Turkey, 17 - 20 May 2006, vol.1, no.1, pp.134, (Summary Text)

151. A case of intrachromosomal ınsertıon on chromosome 7 involvıng fıve breakpoints

Eurpean Human Genetics Conference 2006, Amsterdam, Netherlands, 6 - 09 May 2006, vol.14, (Summary Text)

152. A new syndrome? A case report with short broad terminal phalanges

European Human Genetics Conference, 2006, Amsterdam, Netherlands, 6 - 09 May 2006, vol.14, no.1, pp.156, (Summary Text)

153. A case of intrachromosomal ınsertıon on chromosome 7 involvıng fıve breakpoınts.

European Human Genetics Conference, 2006, Amsterdam, Netherlands, 6 - 09 May 2006, vol.14, no.1, pp.179, (Summary Text)

154. Fetal kromozom analizlerinde saptanan marker kromozomlar

Fetal Tıp Prenatal Tanı Kongresi Maternal Fetal Tıp ve Perinatoloji Derneği Fetal tıp Prenatal Çalışma Grubu, Fetal Tıp Prenatal Tanı 2005 Kongresi , Antalya, Turkey, 30 April - 02 May 2005, vol.1, no.1, pp.109, (Summary Text)

155. 6926 Amniyotik Sıvı Örneği Sitogenetik Sonuçları

. VI. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 21 - 24 April 2004, pp.25, (Full Text)

156. Fetal Kromozom Anomalilerinin Sınıflandırılması;6926 Amniyotik Sıvı Örneği Sonuçları

VI. Ulusal prenatal Tanı ve Tıbbi Genetik Kongresi- 2004, Antalya, Turkey, 21 - 24 April 2004, vol.1, no.1, pp.74, (Summary Text)

157. A case report: Amyoplasia ”Classical artrogryposis”

V. Ulusal Tıbbi Genetik Kongresi, Konya, Turkey, 9 - 12 October 2002, vol.1, no.1, pp.9, (Summary Text)

158. “Fetal Karyotip analizinde saptanan marker kromozomların aydınlatılması: 20 olgunluk seri sonuçları”

V. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 2002 , Konya, Turkey, 9 - 12 October 2002, vol.1, no.1, pp.3, (Summary Text)

159. Okulo-Aurikulo-Vertebral Spektrum’ a Uyan Bir Olgu

IV.Ulusal Prenatal Tanı ve Genetik Kongresi, 2000, İzmir, Turkey, 3 - 06 May 2000, vol.1, no.1, pp.145, (Summary Text)

161. Zeynep Kamil Hastanesi İlk Yıl Kromozom Analiz Sonuçları

3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi- 1998 , Muğla, Turkey, 26 - 30 April 1998, vol.1, no.1, pp.111, (Summary Text)

162. De Novo Kromozom Anomalilerinin Tanısında Yeni Bir Sistem “Chromoprobe Multiprobe”

3. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 1998, Muğla, Turkey, 26 - 30 April 1998, vol.1, no.1, pp.116, (Summary Text)
Books 14

1. BÖLÜM 2: ADLİ BİLİMLERDE YENİ NESİL DİZİLEME

in: Forensic Biology: Pursuing Justice with Nature’s Traces II, Gönül Filoğlu,Özlem Bülbül, Editor, Istanbul University-Cerrahpaşa University Press (IUC University Press), İstanbul, pp.56-69, 2024

2. ANTİK DNA VE GENETİK HASTALIKLAR

in: ANTİK DNA, VURAL BURÇAK, ERTEN YURDAGÜL GAYE, BAYRAM AKÇAPINAR GÜNSELİ, Editor, GİNKO BİLİM, İstanbul, pp.221-239, 2024

3. Antik DNA ve Genetik Hastalıklar

in: Antik DNA - Geçmişin Yankılarında DNA'nın İzini Sürmek, VURAL BURÇAK,ERTEN YURDAGÜL GAYE,BAYRAM AKÇAPINAR GÜNSELİ, Editor, Ginko, İstanbul, pp.221-237, 2024

4. Çoklu Bağlanmaya Bağımlı Prob Amplifikasyonu (Multıplex Lıgatıondependent Probe Amplıfıcatıon – MLPA)

in: Pediatri Pratiğinde Genetik Testlerin Seçimi ve Yorumlanması, Prof. Dr. Beyhan Tüysüz, Editor, Nobel Yayınevi, Ankara, pp.102-111, 2023 Creative Commons License

5. TANIDA MLPA UYGULAMALARI

in: KLİNİSYENLER İÇİN GENETİK TESTLER, Prof. Dr. Şükrü öztürk, Prof. Dr. Kıvanç Çefle, Editor, EMA TIP KİTABEVİ YAYINCILIK TİC. LTD. ŞTİ, İstanbul, pp.327-337, 2022

6. HİPOPİTUİTARİZM

in: Çocuk Endokrinolojisi ve Diyabet, Prof. Dr. Feyza Darendeliler,Prof. Dr. Zehra Aycan,Prof. Dr. Cengiz Kara,Doç. Dr. Samim Özen,Doç. Dr. Erdal Eren, Editor, İSTANBUL TIP KİTABEVLERİ, İstanbul, pp.367-424, 2021 Sustainable Development

7. HİPOPİTUİTARİZM

in: Çocuk Endokrinolojisi ve Diyabet, Prof. Dr. Feyza Darendeliler, Prof. Dr. Zehra Aycan, Prof. Dr. Cengiz Kara, Doç. Dr. Samim Özen, Doç. Dr. Erdal Eren, Editor, İSTANBUL TIP KİTABEVLERİ, İstanbul, pp.367-424, 2021 Sustainable Development

8. COVID-19 Salgınında Anjiyotensin Dönüştürücü Enzim 2 Reseptörü Gen Varyantlarının Önemi

in: COVID-19: Moleküler ve Klinik Yaklaşım, Bedia Çakmakoğlu,Sema Sırma Ekmekçi,Umut Can Küçüksezer,Vuslat Yılmaz,Günnur Deniz, Editor, Istanbul University, İstanbul, pp.66-76, 2020 Creative Commons License Sustainable Development

9. Türk Bireylerde Tanımlanan ACE2, TMPRSS2,
CTSB ve CTSL Gen Varyantlarının Populasyonlar Arası Karşılaştırmalı Analizi

in: COVID-19: Moleküler ve Klı̇nik Yaklaşım, Bedia Çakmakoğlu,Sema Sırma Ekmekçi,Umut Can Küçüksezer,Vuslat Yılmaz,Günnur Deniz, Editor, Istanbul University, İstanbul, pp.67-76, 2020 Sustainable Development

10. Tıbbi Genetik ve Genetik Hastalıklar-Moleküler Genetikte Temel Bilgiler

in: Pediyatri, Prof. Dr. Olcay Neyzi,Prof. Dr. Türkan Ertuğrul,Prof. Dr. Feyza Darendeliler, Editor, Nobel Yayın Dağıtım, İstanbul, pp.163-170, 2020

11. IV. BÖLÜM TIBBİ GENETİK VE GENETİK HASTALIKLAR, 5. Moleküler Genetikte Temel Bilgiler

in: PEDİYATRİ, Prof. Dr. Feyza Darendeliler , Prof. Dr. Olcay Neyzi , Prof. Dr. Türkân Ertuğrul, Editor, NOBEL TIP KİTABEVLERİ, İstanbul, pp.163-170, 2020

12. Türk Bireylerde Tanımlanan ACE2, TMPRSS2, CTSB ve CTSL GenVaryantlarının Populasyonlar Arası Karşılaştırmalı Analizi

in: COVID-19: MOLEKÜLER VE KLİNİK YAKLAŞIM, Prof. Dr. Bedia ÇAKMAKOĞLU, Prof. Dr. Sema SIRMA EKMEKÇİ, Doç. Dr. Umut Can KÜÇÜKSEZER, Doç. Dr. Vuslat YILMAZ, Prof. Dr. Günnur DENİZ, Editor, Istanbul University Press, İstanbul, pp.67-76, 2020 Sustainable Development

13. Nefrotik sendromda genetik

in: Genetik ve Multidisipliner Yaklaşımlar, Semerci Gündüz CN, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.8-21, 2019

14. NEFROTİK SENDROMDA GENETİK

in: GENETİK VE MULTİDİSİPLİNER YAKLAŞIMLAR TÜRKİYE KLİNİKLERİ, TIBBİ GENETİK, NUR SEMERCİ GÜNDÜZ, Editor, Ortadoğu Reklam Tanıtım Yayıncılık Turizm Eğitim İnşaat Sanayi ve Ticaret A.Ş., Ankara, pp.8-21, 2019
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