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Effect of different storage conditions on COVID‐19 RT‐PCR results
Yilmaz Gulec, Elif, Cesur, Nevra P., Yesilyurt Fazlioğlu, Gonca, Kazezoğlu, Cemal
Published in Journal of medical virology (01.12.2021)
Published in Journal of medical virology (01.12.2021)
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Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
Yilmaz Gulec, Elif, Turgut, Gozde Tutku, Gezdirici, Alper, Karaman, Volkan, Ozturk, Fatma Nihal, Avci, Sahin, Kalayci, Tugba, Senturk, Leyli, Ayaz, Akif, Kayserili, Hulya, Uyguner, Zehra Oya, Altunoğlu, Umut
Published in Clinical genetics (01.09.2022)
Published in Clinical genetics (01.09.2022)
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An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants
Gezdirici, Alper, Teralı, Kerem, Gülec, Elif Yılmaz, Bornaun, Helen, Dogan, Mustafa, Eröz, Recep
Published in Journal of human genetics (01.07.2021)
Published in Journal of human genetics (01.07.2021)
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ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype
Beyens, Aude, Moreno‐Artero, Ester, Bodemer, Christine, Cox, Helen, Gezdirici, Alper, Yilmaz Gulec, Elif, Kahloul, Najoua, Khau Van Kien, Philippe, Ogur, Gonul, Harroche, Annie, Vasse, Marc, Salhi, Aïcha, Symoens, Sofie, Hadj‐Rabia, Smail, Callewaert, Bert
Published in Experimental dermatology (01.10.2019)
Published in Experimental dermatology (01.10.2019)
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How to Manage Low Estriol Levels in Pregnancies, One Center Experience
YILMAZ GULEC, Elif, GEZDIRICI, Alper, AYAZ, Akif, OZTURK, Fatma Nihal, POLAT, Ibrahim
Published in Medeniyet medical journal (18.03.2022)
Published in Medeniyet medical journal (18.03.2022)
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Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers
AYAZ, Akif, GEZDIRICI, Alper, YILMAZ GULEC, Elif, OZALP, Özge, KOSEOGLU, Abdullah Huseyin, DOGRU, Zeynep, YALCINTEPE, Sinem
Published in Medeniyet medical journal (23.06.2022)
Published in Medeniyet medical journal (23.06.2022)
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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease
Jolly, Angad, Bayram, Yavuz, Turan, Serap, Aycan, Zehra, Tos, Tulay, Abali, Zehra Yavas, Hacihamdioglu, Bulent, Coban Akdemir, Zeynep Hande, Hijazi, Hadia, Bas, Serpil, Atay, Zeynep, Guran, Tulay, Abali, Saygin, Bas, Firdevs, Darendeliler, Feyza, Colombo, Roberto, Barakat, Tahsin Stefan, Rinne, Tuula, White, Janson J, Yesil, Gozde, Gezdirici, Alper, Gulec, Elif Yilmaz, Karaca, Ender, Pehlivan, Davut, Jhangiani, Shalini N, Muzny, Donna M, Poyrazoglu, Sukran, Bereket, Abdullah, Gibbs, Richard A, Posey, Jennifer E, Lupski, James R
Published in The journal of clinical endocrinology and metabolism (01.08.2019)
Published in The journal of clinical endocrinology and metabolism (01.08.2019)
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The evaluation of potential global impact of the N501Y mutation in SARS‐COV‐2 positive patients
Komurcu, Selen Zeliha Mart, Artik, Yakup, Cesur, Nevra Pelin, Tanriverdi, Arzu, Erdogan, Derya Cakir, Celik, Sule, Gulec, Elif Yilmaz
Published in Journal of medical virology (01.03.2022)
Published in Journal of medical virology (01.03.2022)
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Cernunnos/XLF Deficiency : A Syndromic Primary Immunodeficiency
Çipe, Funda Erol, Aydoğmuş, Çiğdem, Babayigit Hocaoglu, Arzu, Kilic, Merve, Kaya, Gul Demet, Yilmaz Gulec, Elif
Published in Case reports in pediatrics (01.01.2014)
Published in Case reports in pediatrics (01.01.2014)
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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility
Ta-Shma, Asaf, Hjeij, Rim, Perles, Zeev, Dougherty, Gerard W., Abu Zahira, Ibrahim, Letteboer, Stef J. F., Antony, Dinu, Darwish, Alaa, Mans, Dorus A., Spittler, Sabrina, Edelbusch, Christine, Cindrić, Sandra, Nöthe-Menchen, Tabea, Olbrich, Heike, Stuhlmann, Friederike, Aprea, Isabella, Pennekamp, Petra, Loges, Niki T., Breuer, Oded, Shaag, Avraham, Rein, Azaria J. J. T., Gulec, Elif Yilmaz, Gezdirici, Alper, Abitbul, Revital, Elias, Nael, Amirav, Israel, Schmidts, Miriam, Roepman, Ronald, Elpeleg, Orly, Omran, Heymut
Published in PLoS genetics (27.08.2018)
Published in PLoS genetics (27.08.2018)
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C-terminal TREX1 c.914A>G variant in a patient with IgA nephropathy and thrombotic microangiopathy: expanding the clinical and genetic spectrum of IgA nephropathy with microangiopathic lesions
Dirim, Ahmet Burak, Gulec, Elif Yilmaz, Hurdogan, Ozge, Ozluk, Yasemin, Mirioglu, Safak, Artan, Ayse Serra, Oto, Ozgur Akin, Yazici, Halil
Published in Clinical kidney journal (01.07.2025)
Published in Clinical kidney journal (01.07.2025)
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Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations
Verlee, Maxim, Beyens, Aude, Gezdirici, Alper, Gulec, Elif Yilmaz, Pottie, Lore, De Feyter, Silke, Vanhooydonck, Michiel, Tapaneeyaphan, Piyanoot, Symoens, Sofie, Callewaert, Bert
Published in Genes (31.03.2021)
Published in Genes (31.03.2021)
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Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features
Efthymiou, Stephanie, Herman, Isabella, Rahman, Fatima, Anwar, Najwa, Maroofian, Reza, Yip, Janice, Mitani, Tadahiro, Calame, Daniel G., Hunter, Jill V., Sutton, V. Reid, Gulec, Elif, Duan, Ruizhi, Fatih, Jawid M., Marafi, Dana, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Posey, Jennifer E., Maqbool, Shazia, Lupski, James R., Houlden, Henry
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases
Antony, Dinu, Gulec Yilmaz, Elif, Gezdirici, Alper, Slagter, Lennart, Bakey, Zeineb, Bornaun, Helen, Tanidir, Ibrahim Cansaran, Van Dinh, Tran, Brunner, Han G., Walentek, Peter, Arnold, Sebastian J., Backofen, Rolf, Schmidts, Miriam
Published in Frontiers in genetics (13.04.2022)
Published in Frontiers in genetics (13.04.2022)
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How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?
Gezdirici, Alper, Ekiz, Ali, Güleç, Elif Yılmaz, Kaya, Başak, Sezer, Salim, Atış Aydın, Alev
Published in The journal of maternal-fetal & neonatal medicine (01.04.2017)
Published in The journal of maternal-fetal & neonatal medicine (01.04.2017)
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Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
Duan, Ruizhi, Hijazi, Hadia, Gulec, Elif Yilmaz, Eker, Hatice Koçak, Costa, Silvia R., Sahin, Yavuz, Ocak, Zeynep, Isikay, Sedat, Ozalp, Ozge, Bozdogan, Sevcan, Aslan, Huseyin, Elcioglu, Nursel, Bertola, Débora R., Gezdirici, Alper, Du, Haowei, Fatih, Jawid M., Grochowski, Christopher M., Akay, Gulsen, Jhangiani, Shalini N., Karaca, Ender, Gu, Shen, Coban-Akdemir, Zeynep, Posey, Jennifer E., Bayram, Yavuz, Sutton, V. Reid, Carvalho, Claudia M.B., Pehlivan, Davut, Gibbs, Richard A., Lupski, James R.
Published in HGG advances (13.10.2022)
Published in HGG advances (13.10.2022)
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A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family
Caridi, Gianluca, Yilmaz Gulec, Elif, Campagnoli, Monica, Lugani, Francesca, Onal, Hasan, Kilic, Duzgun, Galliano, Monica, Minchiotti, Lorenzo
Published in Biochemia medica (01.01.2016)
Published in Biochemia medica (01.01.2016)
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