Resultados de procura - Güney Bademci

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  1. 1
    Whole-exome sequencing and its impact in hereditary hearing loss

    Whole-exome sequencing and its impact in hereditary hearing loss por Tahir Atık, Güney Bademci, Oscar Diaz‐Horta, Susan H. Blanton, Mustafa Tekin

    Publicado 2015
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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 por Tahir Atık, Hüseyin Önay, Ayça Aykut, Güney Bademci, Tayfun Kirazlı, Mustafa Tekin, Ferda Özkınay

    Publicado 2015
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  3. 3
    A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

    A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes por Demet Tekin, Denise Yan, Güney Bademci, Yong Feng, Shengru Guo, Joseph Foster, Susan H. Blanton, Mustafa Tekin, Xuezhong Liu

    Publicado 2016
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  4. 4
    Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population

    Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population por Erick Figueroa-Ildefonso, Güney Bademci, Farid Rajabli, Mario Cornejo‐Olivas, Ruy D. Chacón, Rodolfo Badillo-Carrillo, Miguel Inca‐Martinez, Karina Milla‐Neyra, Claire J. Sineni, Mustafa Tekin

    Publicado 2019
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  5. 5
    Variants in <i>CIB2</i> cause DFNB48 and not USH1J

    Variants in <i>CIB2</i> cause DFNB48 and not USH1J por Kevin T. Booth, Kimia Kahrizi, Mojgan Babanejad, Hossein Daghagh, Güney Bademci, Sanaz Arzhangi, Davood Zare‐Abdollahi, Duygu Duman, A. Amraoui, Mustafa Tekin, Hossein Najmabadi, Héla Azaiez, Richard J. Smith

    Publicado 2017
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  6. 6
    Whole exome sequencing of rare variants in <i>EIF4G1</i> and <i>VPS35</i> in Parkinson disease

    Whole exome sequencing of rare variants in <i>EIF4G1</i> and <i>VPS35</i> in Parkinson disease por Karen Nuytemans, Güney Bademci, Vanessa Inchausti, Amy Dressen, Daniel D. Kinnamon, Arpit Mehta, Liyong Wang, Stephan Züchner, Gary W. Beecham, Eden R. Martin, William K. Scott, Jeffery M. Vance

    Publicado 2013
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  7. 7
    Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies

    Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies por Ashraf Hussain, Maria Fernanda Villalba, Dayna Morel Swols, Rayan Abou Khzam, Brittney Keira Johnson, LéShon Peart, Sarha D’Haiti, Alana Grajewski, Mustafa Tekin, Ta Chen Chang, Güney Bademci

    Publicado 2025
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  8. 8
    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome por Tahir Atık, Asuman Koparır, Güney Bademci, Joseph Foster, Umut Altunoğlu, Gül Yeşiltepe Mutlu, Sarah Bowdin, Nursel Elçioğlu, Gulsen Akay Tayfun, Sevinç Şahin Atik, Mustafa Özen, Ferda Özkınay, Yasemin Alanay, Hülya Kayserili, Steffen Thiel, Mustafa Tekin

    Publicado 2015
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  9. 9
    Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

    Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia por Aslı Sırmacı, Michail Spiliopoulos, Francesco Brancati, Eric Powell, Duygu Duman, Alex Abrams, Güney Bademci, Emanuele Agolini, Shengru Guo, Berrin Konuk, Aslı Kavaz, Susan H. Blanton, M. Cristina Digilio, Bruno Dallapiccola, Juan I. Young, Stephan Züchner, Mustafa Tekin

    Publicado 2011
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  10. 10
    Targeted Resequencing of Deafness Genes Reveals a Founder<i>MYO15A</i>Variant in Northeastern Brazil

    Targeted Resequencing of Deafness Genes Reveals a Founder<i>MYO15A</i>Variant in Northeastern Brazil por Gabrielle Novais Manzoli, Güney Bademci, Angelina Xavier Acosta, Têmis Maria Félix, Filiz Başak Cengiz, Joseph Foster, Danniel S. Dias Da Silva, Ibis Menéndez, Isalis Sanchez-Pena, Demet Tekin, Susan H. Blanton, Kiyoko Abe‐Sandes, Xue Zhong Liu, Mustafa Tekin

    Publicado 2016
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  11. 11
    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 por Yvonne J. K. Edwards, Gary W. Beecham, William K. Scott, Sawsan Khuri, Güney Bademci, Demet Tekin, Eden R. Martin, Zhijie Jiang, Deborah C. Mash, Jarlath M.H. ffrench‐Mullen, Margaret A. Pericak‐Vance, Nicholas F. Tsinoremas, Jeffery M. Vance

    Publicado 2011
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  12. 12
    <i>C9ORF72</i> Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease

    <i>C9ORF72</i> Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease por Karen Nuytemans, Güney Bademci, Martin M. Kohli, Gary W. Beecham, Liyong Wang, Juan I. Young, Fatta B. Nahab, Eden R. Martin, John R. Gilbert, Michael Benatar, Jonathan L. Haines, William K. Scott, Stephan Züchner, Margaret A. Pericak‐Vance, Jeffery M. Vance

    Publicado 2013
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  13. 13
    Comparison of Three Targeted Enrichment Strategies on the SOLiD Sequencing Platform

    Comparison of Three Targeted Enrichment Strategies on the SOLiD Sequencing Platform por Dale J. Hedges, Toumy Guettouche, Shan Yang, Güney Bademci, Ashley Diaz, Ashley Andersen, William Hulme, Sara B. Linker, Arpit Mehta, Yvonne J. K. Edwards, Gary W. Beecham, Eden R. Martin, Margaret A. Pericak‐Vance, Stephan Züchner, Jeffery M. Vance, John R. Gilbert

    Publicado 2011
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  14. 14
    FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

    FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing por Oscar Diaz‐Horta, Asli Subasioglu-Uzak, M’hamed Grati, Alexandra A. DeSmidt, Joseph Foster, Lei Cao, Güney Bademci, Suna Tokgöz-Yılmaz, Duygu Duman, Filiz Başak Cengiz, Clemer Abad, Rahul Mittal, Susan H. Blanton, Xue Z. Liu, Amjad Farooq, Katherina Walz, Zhongmin Lu, Mustafa Tekin

    Publicado 2014
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  15. 15
    ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

    ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice por Oscar Diaz‐Horta, Clemer Abad, Levent Sennaroğlu, Joseph Foster, Alexandra A. DeSmidt, Güney Bademci, Suna Tokgöz-Yılmaz, Duygu Duman, Filiz Başak Cengiz, M’hamed Grati, Suat Fítöz, Xue Z. Liu, Amjad Farooq, Faiqa Imtiaz, Benjamin Currall, Cynthia C. Morton, Michiru Nishita, Yasuhiro Minami, Zhongmin Lu, Katherina Walz, Mustafa Tekin

    Publicado 2016
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  16. 16
    Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

    Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss por Güney Bademci, Filiz Başak Cengiz, Joseph Foster, Duygu Duman, Levent Sennaroğlu, Oscar Diaz‐Horta, Tahir Atık, Tayfun Kirazlı, Levent Olgun, Hüdaver Alper, Ibis Menéndez, İlayda LOÇLAR KARAALP, Gonca Sennaroğlu, Suna Tokgöz-Yılmaz, Shengru Guo, Yüksel Olgun, Nejat Mahdieh, Mortaza Bonyadi, Nazım Bozan, Abdurrahman Ayral, Ferda Özkınay, Muzeyyen Yildirim‐Baylan, Susan H. Blanton, Mustafa Tekin

    Publicado 2016
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  17. 17
    A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

    A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss por Aslı Sırmacı, Seyra Erbek, Justin Price, Mingqian Huang, Duygu Duman, Filiz Başak Cengiz, Güney Bademci, Suna Tokgöz-Yılmaz, Burcu Öztürk Hişmi, Hi̇lal Özdağ, Banu Öztürk, Sevsen Kulaksızoğlu, Erkan Yıldırım, Haris Kokotas, Maria Grigoriadou, Michael B. Petersen, Hashem Shahin, Moien Kanaan, Mary‐Claire King, Zheng‐Yi Chen, Susan H. Blanton, Xue Z. Liu, Stephan Züchner, Nejat Akar, Mustafa Tekin

    Publicado 2010
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  18. 18
    Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

    Transcriptome-wide outlier approach identifies individuals with minor spliceopathies por T. Maurer, Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon, Gabrielle Lemire, Pagé C. Goddard, Evin M. Padhi, Alexander M Miller, J. Nguyen, Jialan Ma, Kevin S. Smith, Stuart A. Scott, Linda M. Liao, Zena Ng, Shruti Marwaha, Güney Bademci, Stephanie Bivona, Mustafa Tekin, Jonathan A. Bernstein, Stephen B. Montgomery, Anne O’Donnell‐Luria, Matthew T. Wheeler, Vijay S Ganesh

    Publicado 2025
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  19. 19
    Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

    Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort por Güney Bademci, Joseph Foster, Nejat Mahdieh, Mortaza Bonyadi, Duygu Duman, Filiz Başak Cengiz, Ibis Menéndez, Oscar Diaz‐Horta, Atefeh Shirkavand, Sirous Zeinali, Aslı Subaşıoğlu, Suna Tokgöz-Yılmaz, Fabiola Huesca-Hernández, María de la Luz Arenas‐Sordo, Juan Domínguez-Aburto, Edgar Hernández‐Zamora, Paola Montenegro, Rosario Paredes, Germania Moreta, Rodrigo Vinueza, Franklin Villegas, Santiago Mendoza-Benitez, Shengru Guo, Nazım Bozan, Tülay Tos, Armağan İncesulu, Gonca Sennaroğlu, Susan H. Blanton, Hatice Akay, Muzeyyen Yildirim‐Baylan, Mustafa Tekin

    Publicado 2015
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  20. 20
    Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

    Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents por Denise Yan, Demet Tekin, Güney Bademci, Joseph Foster, Filiz Başak Cengiz, Abhiraami Kannan-Sundhari, Shengru Guo, Rahul Mittal, Bing Zou, M’hamed Grati, Rosemary I. Kabahuma, Mohan Kameswaran, Taye J. Lasisi, Waheed Adeola Adedeji, Akeem O. Lasisi, Ibis Menéndez, Marianna Herrera, Claudia Carranza, Reza Maroofian, Andrew H. Crosby, Mariem Ben Saïd, Saber Masmoudi, Mahdiyeh Behnam, Majid Mojarrad, Yong Feng, Duygu Duman, Alex M. Mawla, Alex S. Nord, Susan H. Blanton, Xue Z. Liu, Mustafa Tekin

    Publicado 2016
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