Works by Balci, B.


Results: 35
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    Genotype–phenotype correlations in individuals with pathogenic <italic>RERE</italic> variants.

    Published in:
    Human Mutation, 2018, v. 39, n. 5, p. 666, doi. 10.1002/humu.23400
    By:
    • Jordan, Valerie K.;
    • Fregeau, Brieana;
    • Ge, Xiaoyan;
    • Giordano, Jessica;
    • Wapner, Ronald J.;
    • Balci, Tugce B.;
    • Carter, Melissa T.;
    • Bernat, John A.;
    • Moccia, Amanda N.;
    • Srivastava, Anshika;
    • Martin, Donna M.;
    • Bielas, Stephanie L.;
    • Pappas, John;
    • Svoboda, Melissa D.;
    • Rio, Marlène;
    • Boddaert, Nathalie;
    • Cantagrel, Vincent;
    • Lewis, Andrea M.;
    • Scaglia, Fernando;
    • Undiagnosed Diseases Network
    Publication type:
    Article
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    İzole Penetran Flank Yaralanmalarına Yaklaşım.

    Published in:
    Journal of Academic Research in Medicine, 2013, v. 3, n. 3, p. 100, doi. 10.5152/jarem.2013.388
    By:
    • Gönüllü, Doğan;
    • Can Balcı, M. B.;
    • Lari, Mehmet Gedik;
    • Er, Muzaffer;
    • Köksoy, Ferda Nihat
    Publication type:
    Article
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    Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1900, doi. 10.1002/ajmg.a.63226
    By:
    • Wojcik, Monica H.;
    • Srivastava, Siddharth;
    • Agrawal, Pankaj B.;
    • Balci, Tugce B.;
    • Callewaert, Bert;
    • Calvo, Pier Luigi;
    • Carli, Diana;
    • Caudle, Michelle;
    • Colaiacovo, Samantha;
    • Cross, Laura;
    • Demetriou, Kalliope;
    • Drazba, Katy;
    • Dutra‐Clarke, Marina;
    • Edwards, Matthew;
    • Genetti, Casie A.;
    • Grange, Dorothy K.;
    • Hickey, Scott E.;
    • Isidor, Bertrand;
    • Küry, Sébastien;
    • Lachman, Herbert M.
    Publication type:
    Article
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    Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2829, doi. 10.1002/ajmg.a.62356
    By:
    • Chang, Caitlin A.;
    • Perrier, Renee;
    • Kurek, Kyle C.;
    • Estrada‐Veras, Juvianee;
    • Lehman, Anna;
    • Yip, Stephen;
    • Hendson, Glenda;
    • Diamond, Carol;
    • Pinchot, Jason W.;
    • Tran, Jennifer M.;
    • Arkin, Lisa M.;
    • Drolet, Beth A.;
    • Napier, Melanie P.;
    • O'Neill, Sarah A.;
    • Balci, Tugce B.;
    • Keppler‐Noreuil, Kim M.
    Publication type:
    Article
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    Tatton‐Brown‐Rahman syndrome: Six individuals with novel features.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 673, doi. 10.1002/ajmg.a.61475
    By:
    • Balci, Tugce B.;
    • Strong, Alana;
    • Kalish, Jennifer M.;
    • Zackai, Elaine;
    • Maris, John M.;
    • Reilly, Anne;
    • Surrey, Lea F.;
    • Wertheim, Gerald B.;
    • Marcadier, Julien L.;
    • Graham, Gail E.;
    • Carter, Melissa T.
    Publication type:
    Article
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    BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

    Published in:
    Journal of Clinical Investigation, 2015, v. 125, n. 6, p. 2363, doi. 10.1172/JCI81163
    By:
    • Basak, Anindita;
    • Hancarova, Miroslava;
    • Ulirsch, Jacob C.;
    • Balci, Tugce B.;
    • Trkova, Marie;
    • Pelisek, Michal;
    • Vlckova, Marketa;
    • Muzikova, Katerina;
    • Cermak, Jaroslav;
    • Trka, Jan;
    • Dyment, David A.;
    • Orkin, Stuart H.;
    • Daly, Mark J.;
    • Sedlacek, Zdenek;
    • Sankaran, Vijay G.
    Publication type:
    Article
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    Comparison of demographic, clinic and radiological features of patients with axial spondyloarthritis accompanying familial Mediterranean fever to patients with each condition alone.

    Published in:
    Scandinavian Journal of Rheumatology, 2023, v. 52, n. 5, p. 530, doi. 10.1080/03009742.2022.2143621
    By:
    • Kiracı, M;
    • Bilgin, E;
    • Duran, E;
    • Farisoğulları, B;
    • Bölek, EC;
    • Yardımcı, GK;
    • Ozsoy, Z;
    • Ayan, G;
    • Uzun, GS;
    • Akbaba, TH;
    • Balci-Peynircioglu, B;
    • Karadag, O;
    • Akdogan, A;
    • Bilgen, SA;
    • Kiraz, S;
    • Ertenli, AI;
    • Kalyoncu, U;
    • Kılıç, L
    Publication type:
    Article