Hasil Pencarian - LeShon Peart

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  1. 1
    Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review

    Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review oleh LéShon Peart, Mustafa Tekin

    Diterbitkan 2024-05-01
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  2. 2
    P254: Exome sequencing as a first-tier approach for rare forms of syndromic hearing loss

    P254: Exome sequencing as a first-tier approach for rare forms of syndromic hearing loss oleh Carson Smith, Dayna Morel, LéShon Peart, Memoona Ramzan, Mustafa Tekin

    Diterbitkan 2024-01-01
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  3. 3
    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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  4. 4
    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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  5. 5
    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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  6. 6
    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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  7. 7
    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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  8. 8
    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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  9. 9
    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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