Elifcan Taşdelen (Elifcan Tasdelen)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 8

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Italian journal of pediatrics

This page only lists publications with an associated author ORCID identifier.

Publications

Ahmet Kablan, Elifcan Taşdelen
Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature. Italian journal of pediatrics 50 (1) (2024)
Ahmet Kablan, Elifcan Taşdelen
Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature. Italian journal of pediatrics 50 (1) (2024)
Elifcan Taşdelen, Abdullah Sezer, İsa An
A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye. American journal of medical genetics. Part A (2024)
Ahmet Kablan, Elifcan Taşdelen
Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature. Italian journal of pediatrics 50 (1) (2024)
Ahmet Kablan, Elifcan Taşdelen
Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature. Italian journal of pediatrics 50 (1) (2024)
Elifcan Taşdelen, Daniel G Calame, Gulsen Akay, Tadahiro Mitani, Jawid M Fatih, Isabella Herman, Haowei Du, Zeynep Coban-Akdemir, Dana Marafi, Shalini N Jhangiani, Jennifer E Posey, Richard A Gibbs, Taylan Altıparmak, Nüket Yürür Kutlay, James R. Lupski, Davut Pehlivan
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. American journal of medical genetics. Part A 188 (7) (2022)
Ezgi Gökpinar İli, Elifcan Taşdelen, Ceren Damla Durmaz, Şule Altıner, Timur Tuncalı, Victor Martinez-Glez, Halil Gürhan Karabulut, Seçil Vural, Serdar Ceylaner, Mustafa Oğuz Acar, Hatice Ilgın Ruhi
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS). American journal of medical genetics. Part A 188 (6) (2022)
Ezgi Gizem Berkay, Leyla Elkanova, Tuğba Kalaycı, Dilek Uludağ Alkaya, Umut Altunoglu, Kıvanç Cefle, Ercan Mıhçı, Banu Nur, Elifcan Taşdelen, Zuhal Bayramoğlu, Volkan Karaman, Güven Toksoy, Nilay Güneş, Şükrü Öztürk, Şükrü Palandüz, Hülya Kayserili, Beyhan Tüysüz, Zehra Oya Uyguner
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey. American journal of medical genetics. Part A 185 (8) (2021)