Hasil Pencarian - Guney Bademci

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  1. 1
    Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

    Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families oleh Arti Pandya, Alexander O'Brien, Michael Kovasala, Guney Bademci, Mustafa Tekin, Kathleen S. Arnos

    Diterbitkan 2020-04-01
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  2. 2
    Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

    Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. oleh Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

    Diterbitkan 2015-01-01
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  3. 3
    P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

    P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder oleh Irman Forghani, Steven Lang, Mustafa Tekin, Guney Bademci, Stephanie Bivona, Stephan Zuchner, Matthew Rodier, Alejo Morales

    Diterbitkan 2024-01-01
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  4. 4
    O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)

    O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN) oleh Stephanie Bivona, Carson Smith, Guney Bademci, LéShon Peart, Joanna Gonzalez, Nicholas Borja, Stephan Zuchner, Mustafa Tekin

    Diterbitkan 2024-01-01
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  5. 5
    Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

    Novel GPR156 variants confirm its role in moderate sensorineural hearing loss oleh Memoona Ramzan, Nazim Bozan, Serhat Seyhan, Mohammad Faraz Zafeer, Aburrahman Ayral, Duygu Duman, Guney Bademci, Mustafa Tekin

    Diterbitkan 2023-10-01
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  6. 6
    Conventional and Molecular Cytogenetic Analyses in Turkish Patients with Multiple Myeloma

    Conventional and Molecular Cytogenetic Analyses in Turkish Patients with Multiple Myeloma oleh Beyhan Durak Aras, Olga Meltem Akay, Gülçin Sungar, Güney Bademci, Vahap Aslan, Jülide Caferler, Muhsin Özdemir, Oğuz Çilingir, Sevilhan Artan, Zafer Gülbaş

    Diterbitkan 2012-05-01
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  7. 7
    Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

    Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies oleh Meng Su, Paul J. Benke, Guney Bademci, Filiz Basak Cengiz, Xiaomei Ouyang, Jinghong Peng, Carmen E. Casas, Mustafa Tekin, Yao-Shan Fan

    Diterbitkan 2018-08-01
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  8. 8
    Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

    Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease oleh Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez, Deborah Barbouth, Henry Moore, Shengru Guo, Undiagnosed Disease Network, Guney Bademci, Mustafa Tekin

    Diterbitkan 2022-04-01
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  9. 9
    Radixin modulates the function of outer hair cell stereocilia

    Radixin modulates the function of outer hair cell stereocilia oleh Sonal Prasad, Barbara Vona, Marta Diñeiro, María Costales, Rocío González-Aguado, Ana Fontalba, Clara Diego-Pérez, Asli Subasioglu, Guney Bademci, Mustafa Tekin, Rubén Cabanillas, Juan Cadiñanos, Anders Fridberger

    Diterbitkan 2020-12-01
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  10. 10
    P136: Functional studies in ADAMTSL2-related geleophysic dysplasia provide insights into pathogenesis and potential treatment targets*

    P136: Functional studies in ADAMTSL2-related geleophysic dysplasia provide insights into pathogenesis and potential treatment targets* oleh Vladimir Camarena, Alejo Morales, Monique Williams, Mohammad Zafeer, Okan Kilic, Ali Kamiar, Monica Rasmuseen, LeShon Peart, Guney Bademci, Deborah Barbouth, Sarah Smithson, Lina Shehadeh, Gaofeng Wang, Katherina Walz, Mustafa Tekin

    Diterbitkan 2023-01-01
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  11. 11
    P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site

    P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site oleh Stephanie Bivona, Mustafa Tekin, Guney Bademci, Carson Smith, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Stephan Zuchner

    Diterbitkan 2023-01-01
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  12. 12
    P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site

    P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site oleh Guney Bademci, Stephanie Bivona, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Carson Smith, Stephan Zuchner, Mustafa Tekin

    Diterbitkan 2023-01-01
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  13. 13
    Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.

    Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability. oleh Megan McSherry, Katherine E Masih, Nursel H Elcioglu, Pelin Celik, Ozge Balci, Filiz Basak Cengiz, Daniella Nunez, Claire J Sineni, Serhat Seyhan, Defne Kocaoglu, Shengru Guo, Duygu Duman, Guney Bademci, Mustafa Tekin

    Diterbitkan 2018-01-01
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  14. 14
    Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

    Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism oleh Maike F. Dohrn, Guney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, Matt C. Danzi, Stephanie A. Bivona, Paul Gueguen, Mohammad F. Zafeer, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner

    Diterbitkan 2024-04-01
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  15. 15
    Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach.

    Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach. oleh Yvonne J K Edwards, Gary W Beecham, William K Scott, Sawsan Khuri, Guney Bademci, Demet Tekin, Eden R Martin, Zhijie Jiang, Deborah C Mash, Jarlath ffrench-Mullen, Margaret A Pericak-Vance, Nicholas Tsinoremas, Jeffery M Vance

    Diterbitkan 2011-02-01
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  16. 16
    Dispersed DNA variants underlie hearing loss in South Florida’s minority population

    Dispersed DNA variants underlie hearing loss in South Florida’s minority population oleh LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A. Eshraghi, Michael E. Hoffer, Simon I. Angeli, Guney Bademci, Susan Blanton, Carson Smith, Fred F. Telischi, Mustafa Tekin

    Diterbitkan 2023-11-01
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  17. 17
    Comparison of three targeted enrichment strategies on the SOLiD sequencing platform.

    Comparison of three targeted enrichment strategies on the SOLiD sequencing platform. oleh Dale J Hedges, Toumy Guettouche, Shan Yang, Guney Bademci, Ashley Diaz, Ashley Andersen, William F Hulme, Sara Linker, Arpit Mehta, Yvonne J K Edwards, Gary W Beecham, Eden R Martin, Margaret A Pericak-Vance, Stephan Zuchner, Jeffery M Vance, John R Gilbert

    Diterbitkan 2011-04-01
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  18. 18
    SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

    SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation oleh Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard

    Diterbitkan 2024-02-01
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