Asst. Prof.

DİDEM YÜCEL YILMAZ


Çocuk Sağlığı Enstitüsü

Pediatrik ve Perinatal Patolojileri Araştırmaları A.B.D.

Education Information

2004 - 2010

2004 - 2010

Doctorate

Hacettepe Üniversitesi, Fen Bilimleri Enstitüsü, Biyoloji/Moleküler Biyoloji, Turkey

2001 - 2004

2001 - 2004

Post Graduate

Hacettepe Üniversitesi, Fen Bilimleri Enstitüsü, Biyoloji/Moleküler Biyoloji, Turkey

1997 - 2001

1997 - 2001

Under Graduate

Hacettepe Üniversitesi, Fen Fakültesi, Biyoloji, Turkey

Dissertations

2010

2010

Doctorate

Kalıtsal Retina Dejenerasyonlarında DNA Mikroarray Yöntemiyle Yüksek Ölçekli Genom Taraması

Hacettepe Üniversitesi, Fen Fakültesi, Biyoloji Bölümü

2004

2004

Post Graduate

Yaşa Bağlı Maküler Dejenerasyonlu (AMD) Türk Hastalarda ABCR Geninde Sekans Değişikliklerinin Saptanması

Hacettepe Üniversitesi, Fen Bilimleri Enstitüsü, Moleküler Biyoloji (Yl) (Tezli)

Foreign Languages

B2 Upper Intermediate

B2 Upper Intermediate

English

Research Areas

Medicine, Health Sciences, Internal Medicine Sciences, Child Health and Diseases, Life Sciences, Molecular Biology and Genetics, Genetic Disorders, Natural Sciences

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

2019

2019

Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect

DURSUN A. , YALNIZOĞLU D. , ÖZGÜL R. K. , Oguz K. K. , Yucel-Yilmaz D.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2019 (Journal Indexed in SCI) identifier identifier identifier

2019

2019

Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect

YALNIZOĞLU D. , ÖZGÜL R. K. , Oguz K. K. , Ozer B., Yucel-Yilmaz D. , Gurbuz B., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, vol.42, no.2, pp.381-388, 2019 (Journal Indexed in SCI) identifier identifier identifier

2018

2018

Five novel ALMS1 gene mutations in six patients with Alstrom syndrome

Kilinc S., Yucel-Yilmaz D. , Ardagil A., Apaydin S., Valverde D., ÖZGÜL R. K. , et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.31, no.6, pp.681-687, 2018 (Journal Indexed in SCI) identifier identifier identifier

2017

2017

A patient with mitochondrial disorder due to a novel mutation in MRPS22

Kilic M., Oguz K., Kilic E. , YÜKSEL D., DEMİRCİ H., SAĞIROĞLU M. S. , et al.

METABOLIC BRAIN DISEASE, vol.32, no.5, pp.1389-1393, 2017 (Journal Indexed in SCI) identifier identifier identifier

2015

2015

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

KARACA M., ÖZGÜL R. K. , ÜNAL O., Yucel-Yilmaz D. , KILIÇ M., Hismi B., et al.

EUROPEAN JOURNAL OF PEDIATRICS, vol.174, no.8, pp.1077-1084, 2015 (Journal Indexed in SCI) identifier identifier identifier

2015

2015

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 genemutation.

ÜNAL Ö., ÖZGÜL R. K. , YÜCEL YILMAZ D. , YALNIZOĞLU D. , TOKATLI A. , SİVRİ H. S. , et al.

Turkish Journal Of Pediatrics, vol.57, pp.388-393, 2015 (Journal Indexed in SCI Expanded)

2014

2014

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

ÖZGÜL R. K. , Karaca M., Kilic M., KUCUK O., YUCEL-YILMAZ D. , UNAL O., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.57, no.10, pp.596-601, 2014 (Journal Indexed in SCI) identifier identifier identifier

2014

2014

Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines

ÖZGÜL R. K. , YUCEL-YILMAZ D. , DURSUN A.

JOURNAL OF CLINICAL IMMUNOLOGY, vol.34, no.3, pp.265-266, 2014 (Journal Indexed in SCI) identifier identifier identifier

2012

2012

OCTN2 GENE MUTATIONS IN TURKISH PATIENTS WITH PRIMARY CARNITINE DEFICIENCY

Yucel-Yilmaz D. , Ersoy M., Candan S., Balci M., KILIÇ M., Gokcay G., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, vol.35, 2012 (Journal Indexed in SCI) identifier

2008

2008

Comparative analysis of genetic diversity in Turkish durum wheat cultivars using RAPD and ISSR markers

Karaca M. , İZBIRAK A.

JOURNAL OF FOOD AGRICULTURE & ENVIRONMENT, vol.6, pp.219-225, 2008 (Journal Indexed in SCI) identifier identifier

Articles Published in Other Journals

2013

2013

A Case of Glutaric Aciduria Type I with a Novel Mutation

Unal N. U. , KOR D., YÜCEL YILMAZ D. , GÜL MERT G., Mungan N. O.

CUKUROVA MEDICAL JOURNAL, vol.38, no.4, pp.809-812, 2013 (Journal Indexed in ESCI) identifier

Refereed Congress / Symposium Publications in Proceedings

2019

2019

Severe Motor Mental Retardation with Microcepahlyand Hypomyelination due to PYCR2 Gene variant in aLarge Family

BİLGİNER GÜRBÜZ B., EROĞLU ERTUĞRUL N. G. , KOŞUKCU C. , YÜCEL YILMAZ D. , ÖZGÜL R. K. , YALNIZOĞLU D. , et al.

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2019 (SSIEM-2019), Rotterdam, Netherlands, 3 - 06 September 2019, vol.42, pp.1-479

2019

2019

Hyperphenylalaninemia due to novel JCDNA12 mutation

SİVRİ H. S. , ÇIKI K. , YÜCEL YILMAZ D. , GÜRSES CİLA H. E. , ÖZGÜL R. K. , TOKATLI A. , et al.

SSIEM 2019: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, Netherlands, 3 - 06 September 2019, vol.42, pp.324

2017

2017

The clinical, biochemical features, and mutational analyses in glutaric acid type 1 patients

BİLGİNER GÜRBÜZ B. , YILDIZ Y. , GOKSOY E., YÜCEL YILMAZ D. , DURSUN A. , TOKATLI A. , et al.

International Congress of Inborn Errorsof Metabolism - ICIEM 2017, 5 - 08 September 2017, vol.5

2016

2016

FONKSİYONEL ÇALIŞMALAR Genetik uzmanlar için yeni nesil dizileme Kursu

YÜCEL YILMAZ D.

3. Nörometabolik Dismorfoloji Sempozyumu, Turkey, 10 - 12 March 2016

2015

2015

Exome sequencing results in unknown genetic metabolic neurometabolic disorders

KILIÇ M., ÖZGÜL R. K. , KILIÇ E. , YÜCEL YILMAZ D. , KAVAK P. , YUCETURK B., et al.

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 September 2015

2015

2015

A case of fucosidosis with a new mutation in FUCA1 gene

PEKTAŞ E. , YÜCEL YILMAZ D. , ÖZGÜL R. K. , DURSUN A.

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 September 2015

2015

2015

Galactosemia case with a novel mutation

KILIÇ M., ZENCİROĞLU A., GÖKSUN E., YÜCEL YILMAZ D. , ÖZGÜL R. K.

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM, 1 - 04 September 2015 identifier identifier identifier

2015

2015

Vacuolar storage material in a family with juvenile parkinsonism andmutations in FBXO7

ESRA S., ÖZGÜL R. K. , YALNIZOĞLU D. , MADEO M., MALANDRİNİ A., KLEE E., et al.

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 September 2015


Citations

Total Citations (WOS): 110

h-index (WOS): 6