Resultados da busca - Davut Pehli̇van

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  1. 1
    Curcumin facilitates a transitory cellular stress response in Trembler-J mice

    Curcumin facilitates a transitory cellular stress response in Trembler-J mice por Yuji Okamoto, Davut Pehli̇van, Wojciech Wiszniewski, C Beck, G. Jackson Snipes, James R. Lupski, Mehrdad Khajavi

    Publicado em 2013
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  2. 2
    Replicative mechanisms for CNV formation are error prone

    Replicative mechanisms for CNV formation are error prone por Claudia M.B. Carvalho, Davut Pehli̇van, Melissa B. Ramocki, Ping Fang, Benjamin Alleva, Luis M. Franco, John W. Belmont, P. J. Hastings, James R. Lupski

    Publicado em 2013
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  3. 3
    Comprehensive assessment reveals numerous clinical and neurophysiological differences between <scp><i>MECP2</i></scp>‐allelic disorders

    Comprehensive assessment reveals numerous clinical and neurophysiological differences between <scp><i>MECP2</i></scp>‐allelic disorders por Davut Pehli̇van, Chengjun Huang, Holly K. Harris, Christine M. Coquery, Aditya Mahat, Mirjana Maletić‐Savatić, Laurence Mignon, Sukru Aras, Daniel G. Glaze, Charles S. Layne, Leonardo Sahelijo, Huda Y. Zoghbi, Matthew J. McGinley, Bernhard Suter

    Publicado em 2025
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  4. 4
    Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome

    Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome por Ender Karaca, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Davut Pehli̇van, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M. Atik, Serkan Erdin, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Publicado em 2015
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  5. 5
    Comprehensive Structural Variant Detection: From Mosaic to Population-Level

    Comprehensive Structural Variant Detection: From Mosaic to Population-Level por Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehli̇van, Sonja W. Scholz, Claudia M.B. Carvalho, Christos Proukakis, Fritz J. Sedlazeck

    Publicado em 2022
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  6. 6
    Detection of mosaic and population-level structural variants with Sniffles2

    Detection of mosaic and population-level structural variants with Sniffles2 por Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehli̇van, Sonja W. Scholz, Claudia M.B. Carvalho, Christos Proukakis, Fritz J. Sedlazeck

    Publicado em 2024
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  7. 7
    Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2

    Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2 por Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehli̇van, Sonja W. Scholz, Claudia M.B. Carvalho, Christos Proukakis, Fritz J. Sedlazeck

    Publicado em 2024
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  8. 8
    Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome

    Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome por Bianca Barbosa Abdala, Andressa Pereira Gonçalves, Jussara Mendonça dos Santos, Raquel Boy, Claudia M.B. Carvalho, Christopher M. Grochowski, Ana Cristina Victorino Krepischi, Carla Rosenberg, Leonor Gusmão, Davut Pehli̇van, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças

    Publicado em 2021
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  9. 9
    Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

    Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome por Anna Lindstrand, Stephan G. Frangakis, Claudia M.B. Carvalho, Ellen Richardson, Kelsey McFadden, Jason R. Willer, Davut Pehli̇van, Pengfei Liu, Igor Pediaditakis, Aniko Sabo, Richard A. Lewis, Eyal Banin, James R. Lupski, Erica E. Davis, Nicholas Katsanis

    Publicado em 2016
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  10. 10
    Phenotypic expansion illuminates multilocus pathogenic variation

    Phenotypic expansion illuminates multilocus pathogenic variation por Ender Karaca, Jennifer E. Posey, Zeynep Coban‐Akdemir, Davut Pehli̇van, Tamar Harel, Shalini N. Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Gözde Yeşil, Sedat Işıkay, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Publicado em 2018
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  11. 11
    Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome

    Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome por Ender Karaca, Ramazan Büyükkaya, Davut Pehli̇van, Wu‐Lin Charng, Kürşat Oğuz Yaykaşlı, Yavuz Bayram, Tomasz Gambin, Marjorie Withers, Mehmed M. Atik, İlknur Arslanoğlu, Semih Bolu, Serkan Erdin, Ayla Büyükkaya, Emine Yaykaşlı, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Publicado em 2014
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  12. 12
    Mutations in<i>VRK1</i>Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly

    Mutations in<i>VRK1</i>Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly por Claudia Gonzaga‐Jauregui, Timothy Lotze, Leila Jamal, Samantha Penney, Ian M. Campbell, Davut Pehli̇van, Jill V. Hunter, Suzanne L. Woodbury, Gerald V. Raymond, Adekunle M. Adesina, Shalini N. Jhangiani, Jeffrey G. Reid, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Richard A. Gibbs, Wojciech Wiszniewski

    Publicado em 2013
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  13. 13
    Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

    Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome por Anna Lindstrand, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehli̇van, Jason R. Willer, I-Chun Tsai, Subhadra Ramanathan, Craig W. Zuppan, Aniko Sabo, Donna M. Muzny, Richard A. Gibbs, Pengfei Liu, Richard A. Lewis, Eyal Banin, James R. Lupski, Robin D. Clark, Nicholas Katsanis

    Publicado em 2014
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  14. 14
    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis

    REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis por Yavuz Bayram, Janson J. White, Nursel Elçioğlu, Megan T. Cho, Neda Zadeh, Asuman Gedikbaşı, Şükrü Palanduz, Şükrü Öztürk, Kıvanç Çefle, Özgür Kasapçopur, Zeynep Coban‐Akdemir, Davut Pehli̇van, Amber Begtrup, Claudia M.B. Carvalho, Ingrid S. Paine, Ali Menteş, Kıvanç Bektaş Kayhan, Ender Karaca, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski

    Publicado em 2017
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  15. 15
    Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

    Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy por Heather M. McLaughlin, Reiko Sakaguchi, Cuiping Liu, Takao Igarashi, Davut Pehli̇van, Kristine Chu, Ram Iyer, Pedro Cruz, Praveen F. Cherukuri, Nancy F. Hansen, James C. Mullikin, Leslie G. Biesecker, Thomas E. Wilson, Victor Ionâşescu, Garth A. Nicholson, Charles Searby, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Kinga Szigeti, James R. Lupski, Ya‐Ming Hou, Eric D. Green, Anthony Antonellis

    Publicado em 2010
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  16. 16
    Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

    Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy por Tamar Harel, Gözde Yeşil, Yavuz Bayram, Zeynep Coban‐Akdemir, Wu‐Lin Charng, Ender Karaca, Ali Al Asmari, Mohammad K. Eldomery, Jill V. Hunter, Shalini N. Jhangiani, Jill A. Rosenfeld, Davut Pehli̇van, Ayman W. El‐Hattab, Mohammed A. Saleh, Charles A. LeDuc, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, Wendy K. Chung, Yaping Yang, John W. Belmont, James R. Lupski

    Publicado em 2016
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  17. 17
    ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

    ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry por Rim Hjeij, Anna Lindstrand, Richard Francis, Maimoona A. Zariwala, Xiaoqin Liu, You Li, Rama Rao Damerla, Gerard W. Dougherty, Marouan Abouhamed, Heike Olbrich, Niki T. Loges, Petra Pennekamp, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehli̇van, Claudius Werner, Johanna Raidt, Gabriele Köhler, Karsten Häffner, Miguel Reyes‐Múgica, James R. Lupski, Margaret W. Leigh, Margaret Rosenfeld, Lucy Morgan, Michael R. Knowles, Cecilia W. Lo, Nicholas Katsanis, Heymut Omran

    Publicado em 2013
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  18. 18
    Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

    Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin por Yavuz Bayram, Ender Karaca, Zeynep Coban‐Akdemir, Elif Ozdamar Yilmaz, Gulsen Akay Tayfun, Hatip Aydın, Deniz Torun, Sevcan Tuğ Bozdoğan, Alper Gezdirici, Sedat Işıkay, Mehmed M. Atik, Tomasz Gambin, Tamar Harel, Ayman W. El‐Hattab, Wu‐Lin Charng, Davut Pehli̇van, Shalini N. Jhangiani, Donna M. Muzny, Ali̇ Karaman, Tamer Çelik, Özge Özalp Yüreğir, Timur Yıldırım, Avni İlhan Bayhan, Eric Boerwinkle, Richard A. Gibbs, Nursel Elçioğlu, Beyhan Tüysüz, James R. Lupski

    Publicado em 2016
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  19. 19
    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease por Paige Martin, Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehli̇van, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa Faqeih, Naif A. M. Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, Ganka Douglas, Jennifer E. Posey, Monique M. Ryan, James R. Lupski, Nigel G. Laing, Claudio A.P. Joazeiro, Gregory A. Cox

    Publicado em 2020
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  20. 20
    Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

    Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease por Angad Jolly, Yavuz Bayram, Serap Turan, Zehra Aycan, Tülay Tos, Zehra Yavaş Abalı, Bülent Hacıhamdioğlu, Zeynep H. Coban Akdemir, Hadia Hijazi, Serpil Baş, Zeynep Atay, Tülay Güran, Saygın Abalı, Firdevs Baş, Feyza Darendelıler, Roberto Colombo, Tahsin Stefan Barakat, Tuula Rinne, Janson J. White, Gözde Yeşil, Alper Gezdirici, Elif Yılmaz Güleç, Ender Karaca, Davut Pehli̇van, Shalini N. Jhangiani, Donna M. Muzny, Şükran Poyrazoğlu, Abdullah Bereket, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski

    Publicado em 2019
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