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A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63782
By:
- Taşdelen, Elifcan;
- Sezer, Abdullah;
- An, Isa
Publication type:
Article
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2153, doi. 10.1002/ajmg.a.62727
By:
- Taşdelen, Elifcan;
- Calame, Daniel G.;
- Akay, Gulsen;
- Mitani, Tadahiro;
- Fatih, Jawid M.;
- Herman, Isabella;
- Du, Haowei;
- Coban‐Akdemir, Zeynep;
- Marafi, Dana;
- Jhangiani, Shalini N.;
- Posey, Jennifer E.;
- Gibbs, Richard A.;
- Altıparmak, Taylan;
- Kutlay, Nüket Yürür;
- Lupski, James R.;
- Pehlivan, Davut
Publication type:
Article
Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS).
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1792, doi. 10.1002/ajmg.a.62709
By:
- Gökpınar İli, Ezgi;
- Taşdelen, Elifcan;
- Durmaz, Ceren Damla;
- Altıner, Şule;
- Tuncalı, Timur;
- Martinez‐Glez, Victor;
- Karabulut, Halil Gürhan;
- Vural, Seçil;
- Ceylaner, Serdar;
- Acar, Mustafa Oğuz;
- Ilgın Ruhi, Hatice
Publication type:
Article
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2488, doi. 10.1002/ajmg.a.62261
By:
- Berkay, Ezgi Gizem;
- Elkanova, Leyla;
- Kalaycı, Tuğba;
- Uludağ Alkaya, Dilek;
- Altunoğlu, Umut;
- Cefle, Kıvanç;
- Mıhçı, Ercan;
- Nur, Banu;
- Taşdelen, Elifcan;
- Bayramoğlu, Zuhal;
- Karaman, Volkan;
- Toksoy, Güven;
- Güneş, Nilay;
- Öztürk, Şükrü;
- Palandüz, Şükrü;
- Kayserili, Hülya;
- Tüysüz, Beyhan;
- Uyguner, Zehra Oya
Publication type:
Article
Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 5, p. 653, doi. 10.1515/jpem-2020-0367
By:
- Cesur Baltacı, Hande Nur;
- Taşdelen, Elifcan;
- Topçu, Vehap;
- Eminoğlu, Fatma Tuba;
- Karabulut, Halil Gürhan
Publication type:
Article
Determination of miR-373 and miR-204 levels in neuronal exosomes in Alzheimer's disease.
Published in:
Turkish Journal of Medical Sciences, 2022, v. 52, n. 5, p. 1458, doi. 10.55730/1300-0144.5484
By:
- TAŞDELEN, Elifcan;
- ÖZEL KIZIL, Erguvan Tuğba;
- TEZCAN, Sabiha;
- YALAP, Eray;
- BİNGÖL, Ayşe Petek;
- YÜRÜR KUTLAY, Nüket
Publication type:
Article
Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance.
Published in:
Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2021, v. 74, n. 3, p. 365, doi. 10.4274/atfm.galenos.2021.66376
By:
- Taşdelen, Elifcan;
- İli, Ezgi Gökpınar;
- Altıner, Şule;
- Ceylan, Ahmet Cevdet;
- Tuncalı, Timur
Publication type:
Article
Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.
Published in:
Cytogenetic & Genome Research, 2018, v. 154, n. 4, p. 181, doi. 10.1159/000489000
By:
- Taşdelen, Elifcan;
- Durmaz, Ceren D.;
- Karabulut, Halil G.
Publication type:
Article

Found: 8