Search Results - Çepni, Ece

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  1. 1
    Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings

    Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings by Çepni, Ece, Satkın, Nihan Bilge, Moheb, Lia Abbasi, Rocha, Maria Eugenia, Kayserili, Hülya

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  2. 2
    Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9

    Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9 by Fatima, Neelam, Dillen, Lieke, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, Ali Khan, Asma, de Brouwer, Arjan P.M., van Bokhoven, Hans

    Published in Stem cell research
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  3. 3
    Revisiting TOP2B‐related phenotypes: Three new cases and literature review

    Revisiting TOP2B‐related phenotypes: Three new cases and literature review by Çepni, Ece, Börklü, Esra, Avcı, Şahin, Kalaycı, Tuğba, Eraslan, Serpil, Kayserili, Hülya

    Published in Clinical genetics
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  4. 4
    Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1

    Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1 by Dillen, Lieke, Fatima, Neelam, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, van Hagen, Johanna M., de Vries, Bert B.A., Khan, Asma Ali, de Brouwer, Arjan P.M., van Bokhoven, Hans

    Published in Stem cell research
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  5. 5
    Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings

    Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings by Çepni, Ece, Satkın, Nihan Bilge, Moheb, Lia Abbasi, Rocha, Maria Eugenia, Kayserili, Hülya

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