Hasil Pencarian - Alper Gezdirici

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  1. 1
    Evaluation of Similar Genetic Pathophysiology Underlying Diabetes Mellitus and Peyronie’s Disease: WNT-2 and TGF Beta-1 Genes

    Evaluation of Similar Genetic Pathophysiology Underlying Diabetes Mellitus and Peyronie’s Disease: WNT-2 and TGF Beta-1 Genes oleh Erdem Toprak, Emin Taha Keskin, Alper Gezdirici, Alper Otunctemur, Halil Lutfi Canat

    Diterbitkan 2024-03-01
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  2. 2
    Extraretinal Fibrovascular Proliferation in a Neonate Possibly Associated with an ESAM Gene Variant

    Extraretinal Fibrovascular Proliferation in a Neonate Possibly Associated with an ESAM Gene Variant oleh Sadık Etka Bayramoğlu, Nihat Sayın, Mehmet Erdoğan, Sümeyra Doğan, Alper Gezdirici, Merih Çetinkaya

    Diterbitkan 2023-12-01
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  3. 3
    Cochlear Implantation in Primrose Syndrome with a Novel ZBTB20 Gene Variant

    Cochlear Implantation in Primrose Syndrome with a Novel ZBTB20 Gene Variant oleh Burak Anıl Tuğci, Alper Gezdirici, Can Berk Aşaroğlu, Ercan Atasoy, İbrahim Sayın, Zahide Mine Yazıcı

    Diterbitkan 2023-12-01
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  4. 4
    Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

    Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy oleh Jaya Punetha, Ender Karaca, Alper Gezdirici, Ryan E. Lamont, Davut Pehlivan, Dana Marafi, Juan P. Appendino, Jill V. Hunter, Zeynep C. Akdemir, Jawid M. Fatih, Shalini N. Jhangiani, Richard A. Gibbs, A. Micheil Innes, Jennifer E. Posey, James R. Lupski

    Diterbitkan 2019-08-01
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  5. 5
    Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

    Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases oleh Dinu Antony, Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G. Brunner, Han G. Brunner, Peter Walentek, Peter Walentek, Sebastian J. Arnold, Sebastian J. Arnold, Rolf Backofen, Rolf Backofen, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts

    Diterbitkan 2022-04-01
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  6. 6
    Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis

    Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis oleh Valentina Capo, Sara Penna, Ivan Merelli, Matteo Barcella, Serena Scala, Luca Basso-Ricci, Elena Draghici, Eleonora Palagano, Erika Zonari, Giacomo Desantis, Paolo Uva, Roberto Cusano, Lucia Sergi Sergi, Laura Crisafulli, Despina Moshous, Polina Stepensky, Katarzyna Drabko, Zühre Kaya, Ekrem Unal, Alper Gezdirici, Giuseppe Menna, Marta Serafini, Alessandro Aiuti, Silvia Laura Locatelli, Carmelo Carlo-Stella, Ansgar S. Schulz, Francesca Ficara, Cristina Sobacchi, Bernhard Gentner, Anna Villa

    Diterbitkan 2020-01-01
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  7. 7
    Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

    Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. oleh Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, Oded Breuer, Avraham Shaag, Azaria J J T Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran

    Diterbitkan 2018-08-01
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  8. 8
    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

    Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability oleh Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski

    Diterbitkan 2022-10-01
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