Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey
Emiralioğlu, Nagehan, Taşkıran, Ekim Z., Koşukcu, Can, Bilgiç, Elif, Atilla, Pergin, Kaya, Bengisu, Günaydın, Önder, Yüzbaşıoğlu, Ayşe, Tuğcu, Gökçen Dilşa, Ademhan, Dilber, Eryılmaz Polat, Sanem, Gharibzadeh Hızal, Mina, Yalçın, Ebru, Doğru, Deniz, Kiper, Nural, Alikaşifoğlu, Mehmet, Özçelik, Uğur
Published in Pediatric pulmonology (01.02.2020)
Published in Pediatric pulmonology (01.02.2020)
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Journal Article
Biomedical Efficacy of Garlic‐Extract‐Loaded Core‐Sheath Plasters for Natural Antimicrobial Wound Care
Majd, Hamta, Gultekinoglu, Merve, Bayram, Cem, Karaosmanoğlu, Beren, Taşkıran, Ekim Z., Kart, Didem, Erol, Özgür Doğuş, Harker, Anthony, Edirisinghe, Mohan
Published in Macromolecular materials and engineering (01.09.2024)
Published in Macromolecular materials and engineering (01.09.2024)
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Journal Article
Pro-fibrogenic and adipogenic aspects of chronic muscle degeneration are contributed by distinct stromal cell subpopulations
Özdemir, Cansu, Akçay, Duygu, Yöyen-Ermiş, Diğdem, Taşkıran, Ekim Zihni, Soylu-Kucharz, Rana, Esendağlı, Güneş, Kocaefe, Yusuf Çetin
Published in PloS one (18.07.2023)
Published in PloS one (18.07.2023)
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Journal Article
Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus
Batu, Ezgi Deniz, Koşukcu, Can, Taşkıran, Ekim, Sahin, Sezgin, Akman, Sema, Sözeri, Betül, Ünsal, Erbil, Bilginer, Yelda, Kasapcopur, Ozgur, Alikaşifoğlu, Mehmet, Ozen, Seza
Published in Journal of rheumatology (01.12.2018)
Published in Journal of rheumatology (01.12.2018)
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Journal Article
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
Akgün-Doğan, Özlem, Simsek-Kiper, Pelin Ozlem, Taşkıran, Ekim, Schossig, Anna, Utine, Gülen Eda, Zschocke, Johannes, Boduroglu, Koray
Published in Journal of child neurology (01.09.2021)
Published in Journal of child neurology (01.09.2021)
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Journal Article
Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3
Simsek‐Kiper, Pelin Ozlem, Jacob, Prince, Upadhyai, Priyanka, Taşkıran, Zihni Ekim, Guleria, Vishal S., Karaosmanoglu, Beren, Imren, Gozde, Gocmen, Rahsan, Bhavani, Gandham S., Kausthubham, Neethukrishna, Shah, Hitesh, Utine, Gulen Eda, Boduroglu, Koray, Girisha, Katta M.
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Journal Article
Genetic testing for DADA2: How can we avoid missing patients?
Sönmez, Hafize Emine, Batu, Ezgi Deniz, Taşkıran, Ekim Z, Alikaşifoğlu, Mehmet, Bilginer, Yelda, Özen, Seza
Published in European journal of human genetics : EJHG (01.11.2018)
Published in European journal of human genetics : EJHG (01.11.2018)
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Journal Article
Human bone marrow mesenchymal stem cells secrete endocannabinoids that stimulate in vitro hematopoietic stem cell migration effectively comparable to beta-adrenergic stimulation
Köse, Sevil, Aerts-Kaya, Fatima, Köprü, Çağla Zübeyde, Nemutlu, Emirhan, Kuşkonmaz, Barış, Karaosmanoğlu, Beren, Taşkıran, Ekim Zihni, Altun, Belgin, Uçkan Çetinkaya, Duygu, Korkusuz, Petek
Published in Experimental hematology (01.01.2018)
Published in Experimental hematology (01.01.2018)
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Journal Article
Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis
Taşkıran, Ekim Z., Sönmez, Hafize E., Ayvaz, Deniz Ç., Koşukcu, Can, Batu, Ezgi D., Esenboğa, Saliha, Topaloğlu, Rezan, Orhan, Diclehan, Bilginer, Yelda, Alikaşifoğlu, Mehmet, Özen, Seza, Tezcan, İlhan
Published in Clinical immunology (Orlando, Fla.) (01.02.2018)
Published in Clinical immunology (Orlando, Fla.) (01.02.2018)
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Journal Article
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy
Daşar, Tuğba, Şimşek-Kiper, Pelin Özlem, Taşkıran, Ekim Zihni, Çağan, Murat, Özyüncü, Özgür, Deren, Özgür, Utine, Gülen Eda, Güçer, Kadri Şafak, Boduroğlu, Koray
Published in European journal of medical genetics (01.12.2022)
Published in European journal of medical genetics (01.12.2022)
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Journal Article
Development, characterization and research of efficacy on in vitro cell culture of glucosamine carrying hyaluronic acid nanoparticles
Şahin, Şebnem, Bilgiç, Elif, Salimi, Kouroush, Tuncel, Ali, Karaosmanoğlu, Beren, Taşkıran, Ekim Z., Korkusuz, Petek, Korkusuz, Feza
Published in Journal of drug delivery science and technology (01.08.2019)
Published in Journal of drug delivery science and technology (01.08.2019)
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Journal Article
Ophthalmo-acromelic syndrome in an infant
Ürel-Demir, Gizem, Taşkıran, Ekim Zihni, Akgün-Doğan, Özlem, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda
Published in European journal of medical genetics (01.07.2019)
Published in European journal of medical genetics (01.07.2019)
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Journal Article
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum
Ürel-Demir, Gizem, Aydın, Büşra, Karaosmanoğlu, Beren, Akgün-Doğan, Özlem, Taşkıran, Ekim Zihni, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda, Boduroğlu, Koray
Published in Molecular syndromology (01.04.2021)
Published in Molecular syndromology (01.04.2021)
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Journal Article
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
Alanay, Yasemin, Ergüner, Bekir, Utine, Eda, Haçarız, Orçun, Kiper, Pelin Ozlem Simsek, Taşkıran, Ekim Zihni, Perçin, Ferda, Uz, Elif, Sağıroğlu, Mahmut Şamil, Yuksel, Bayram, Boduroglu, Koray, Akarsu, Nurten Ayse
Published in American journal of medical genetics. Part A (01.02.2014)
Published in American journal of medical genetics. Part A (01.02.2014)
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Journal Article
Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome
Çetinkaya, Arda, Taşkıran, Ekim, Soyer, Tutku, Şimşek-Kiper, Pelin Özlem, Utine, Gülen Eda, Tunçbilek, Gökhan, Boduroğlu, Koray, Alikaşifoğlu, Mehmet
Published in Turkish journal of pediatrics (2017)
Published in Turkish journal of pediatrics (2017)
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Journal Article
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2
Özen, Seza, Batu, Ezgi Deniz, Taşkıran, Ekim Z, Özkara, Hatice Asuman, Ünal, Şule, Güleray, Naz, Erden, Abdulsamet, Karadağ, Ömer, Gümrük, Fatma, Çetin, Mualla, Sönmez, Hafize Emine, Bilginer, Yelda, Ayvaz, Deniz Çağdaş, Tezcan, Ilhan
Published in Journal of rheumatology (01.01.2020)
Published in Journal of rheumatology (01.01.2020)
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