Dr.Öğr.Üyesi DİDEM YÜCEL YILMAZ

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

The development and validation of a scale on L2 writing teacher feedback literacy

Lee I., Karaca M., Inan S.

Assessing Writing , cilt.57, 2023 (SSCI)

An investigation into L2 writing teacher beliefs and their possible sources

Karaca M., Uysal H. H.

Assessing Writing , cilt.56, 2023 (SSCI)

Researching and Teaching Second Language Writing in the Digital Age

Karaca M., Inan S.

JOURNAL OF SECOND LANGUAGE WRITING , cilt.56, 2022 (SSCI)

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity

DURSUN A., YALNIZOĞLU D., Yilmaz D. Y., Oguz K. K., GÜLBAKAN B., KOŞUKCU C., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.64, sa.11, 2021 (SCI-Expanded)

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Çıkı K., Yıldız Y., Yücel Yılmaz D., Pektaş E., Tokatlı A., Özgül R. K., et al.

METABOLIC BRAIN DISEASE , cilt.36, sa.6, ss.1405-1410, 2021 (SCI-Expanded)

Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

BİLGİNER GÜRBÜZ B., YÜCEL YILMAZ D., ÖZGÜL R. K., KOŞUKCU C., DURSUN A., SİVRİ H. S., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.63, sa.4, ss.691-696, 2021 (SCI-Expanded)

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients

BİLGİNER GÜRBÜZ B., YÜCEL YILMAZ D., COŞKUN T., TOKATLI A., DURSUN A., SİVRİ H. S.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.63, sa.11, 2020 (SCI-Expanded)

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 (SCI-Expanded)

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 , cilt.42, sa.2, ss.381-388, 2019 (SCI-Expanded)

Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span

Yucel-Yilmaz D., Yucesan E., YALNIZOĞLU D., Oguz K. K., Sagiroglu M. S., Ozbek U., et al.

BRAIN & DEVELOPMENT , cilt.40, sa.6, ss.458-464, 2018 (SCI-Expanded)

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 , cilt.31, sa.6, ss.681-687, 2018 (SCI-Expanded)

Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

Kilic M., DURSUN A., COŞKUN T., TOKATLI A., ÖZGÜL R. K., YUCEL-YILMAZ D., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.173, sa.11, ss.2954-2967, 2017 (SCI-Expanded)

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 , cilt.32, sa.5, ss.1389-1393, 2017 (SCI-Expanded)

A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation

DURSUN A., YALNIZOĞLU D., Gerdan O. F., Yucel-Yilmaz D., Sagiroglu M. S., YUKSEL B., et al.

CLINICAL DYSMORPHOLOGY , cilt.26, sa.1, ss.1-12, 2017 (SCI-Expanded)

Evaluation and identification of IDUA gene mutations in Turkish patients with mucopolysaccharidosis type I

Atceken N., ÖZGÜL R. K., Yilmaz D. Y., TOKATLI A., COŞKUN T., SİVRİ H. S., et al.

TURKISH JOURNAL OF MEDICAL SCIENCES , cilt.46, sa.2, ss.404-408, 2016 (SCI-Expanded)

Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

ÖZLEM U., GÖKMEN ÖZEL H., COŞKUN T., ÖZGÜL R. K., YÜCEL YILMAZ D., BURCU H., et al.

Turkish Journal Of Pediatrics , ss.213-218, 2015 (SCI-Expanded)

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 , cilt.174, sa.8, ss.1077-1084, 2015 (SCI-Expanded)

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 , cilt.57, ss.388-393, 2015 (SCI-Expanded)

Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes

Yucel-Yilmaz D., TARLAN B., KIRATLI H., ÖZGÜL R. K.

DNA AND CELL BIOLOGY , cilt.33, sa.12, ss.876-883, 2014 (SCI-Expanded)

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 , cilt.57, sa.10, ss.596-601, 2014 (SCI-Expanded)

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 , cilt.34, sa.3, ss.265-266, 2014 (SCI-Expanded)

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

Karaca M., Hismi B., ÖZGÜL R. K., Karaca S., Yilmaz D. Y., COŞKUN T., et al.

GENE , cilt.534, sa.2, ss.197-203, 2014 (SCI-Expanded)

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations

Oezgul R. K., Guezel-Ozantuerk A., Duendar H., Yuecel-Yilmaz D., COŞKUN T., Sivri S., et al.

JOURNAL OF HUMAN GENETICS , cilt.58, sa.10, ss.675-678, 2013 (SCI-Expanded)

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 , cilt.35, 2012 (SCI-Expanded)

Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients

Yucel D., YILMAZ M., DURUKAN A. H., ÖZGÜL R. K.

OPHTHALMIC GENETICS , cilt.33, sa.3, ss.144-149, 2012 (SCI-Expanded)

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

Karaca M., İZBIRAK A.

JOURNAL OF FOOD AGRICULTURE & ENVIRONMENT , cilt.6, ss.219-225, 2008 (SCI-Expanded)

Diğer Dergilerde Yayınlanan Makaleler

HOMOZYGOUS GNAL MUTATION ASSOCIATED WITH FAMILIAL CHILDHOOD-ONSET GENERALIZED DYSTONIA

MASUHO I., FANG M., GENG C., ZHANG J., JİANG H., ÖZGÜL R. K., et al.

NEUROLOGY-GENETICS , cilt.2, sa.3, 2016 (ESCI)

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 , cilt.38, sa.4, ss.809-812, 2013 (ESCI)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Dirençli Hipoglisemi Hipertrofik Kardiyomiyopati ve Ensefalopatili Bir Hastada Ekzom Dizileme ile Mitokondriyal TSFM Gen Defekti

DURSUN A., ÖMER FARUK G., MELİS P., YÜCEL YILMAZ D., TOPÇU M., YALNIZOĞLU D., et al.

Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015

Kitap & Kitap Bölümleri

Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.

KILIÇ M., ÖZGÜL R. K., COŞKUN T., YÜCEL YILMAZ D., KARACA M., SİVRİ H. S., et al.

JIMD Reports Case and Research Reports 2011 3, , Editör, SPRINGER, 2011

Metrikler

Yayın

Atıf (WoS)

164

H-İndeks (WoS)

Atıf (Scopus)

247

Yayınlar & Eserler