Revisiting TOP2B‐related phenotypes: Three new cases and literature review
Çepni, Ece, Börklü, Esra, Avcı, Şahin, Kalaycı, Tuğba, Eraslan, Serpil, Kayserili, Hülya
Published in Clinical genetics (01.08.2023)
Published in Clinical genetics (01.08.2023)
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Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings
Çepni, Ece, Satkın, Nihan Bilge, Moheb, Lia Abbasi, Rocha, Maria Eugenia, Kayserili, Hülya
Published in American journal of medical genetics. Part A (01.04.2022)
Published in American journal of medical genetics. Part A (01.04.2022)
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Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9
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 (01.10.2024)
Published in Stem cell research (01.10.2024)
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Journal Article
Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1
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 (01.06.2024)
Published in Stem cell research (01.06.2024)
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