Výsledky vyhledávání - Laura K. Conlin

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  1. 1
    The Natural Osmolyte Trehalose Is a Positive Regulator of the Heat-Induced Activity of Yeast Heat Shock Transcription Factor

    The Natural Osmolyte Trehalose Is a Positive Regulator of the Heat-Induced Activity of Yeast Heat Shock Transcription Factor Autor Laura K. Conlin, Hillary C.M. Nelson

    Vydáno 2006
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  2. 2
    A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

    A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data Autor Ramakrishnan Rajagopalan, Jill R. Murrell, Minjie Luo, Laura K. Conlin

    Vydáno 2020
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  3. 3
    Long‐read sequencing for molecular diagnostics in constitutional genetic disorders

    Long‐read sequencing for molecular diagnostics in constitutional genetic disorders Autor Laura K. Conlin, Erfan Aref‐Eshghi, Deborah McEldrew, Minjie Luo, Ramakrishnan Rajagopalan

    Vydáno 2022
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  4. 4
    Mechanisms of ring chromosome formation, ring instability and clinical consequences

    Mechanisms of ring chromosome formation, ring instability and clinical consequences Autor Roberta Santos Guilherme, Vera Meloni, Chong Ae Kim, Renata Pellegrino, S.S. Takeno, Nancy B. Spinner, Laura K. Conlin, Denise Maria Christofolini, Leslie Domenici Kulikowski, Maria Isabel Melaragno

    Vydáno 2011
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  5. 5
    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

    Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis Autor Laura K. Conlin, Brian Thiel, Carsten G. Bönnemann, Līvija Medne, Linda M. Ernst, Elaine H. Zackai, Matthew A. Deardorff, Ian D. Krantz, Hákon Hákonarson, Nancy B. Spinner

    Vydáno 2010
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  6. 6
    Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum

    Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum Autor Qiaoli Li, Jill L. Brodsky, Laura K. Conlin, Bruce Pawel, Andrew C. Glatz, Rachel I. Gafni, Leon J. Schurgers, Jouni Uitto, Hákon Hákonarson, Matthew A. Deardorff, Michael A. Levine

    Vydáno 2013
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  7. 7
    Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and <b><i>KDM6A</i></b> Haploinsufficiency

    Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and <b><i>KDM6A</i></b> Haploinsufficiency Autor C. E. Gibson, Kara E. Boodhansingh, Changhong Li, Laura K. Conlin, Pan Chen, Susan Becker, Tricia R. Bhatti, Vaneeta Bamba, N. Scott Adzick, Diva D. De León, Arupa Ganguly, Charles A. Stanley

    Vydáno 2018
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  8. 8
    Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

    Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the Americ... Autor Darrel Waggoner, Karen E. Wain, Adrian M. Dubuc, Laura K. Conlin, Scott E. Hickey, Allen N. Lamb, Christa Lese Martin, Cynthia C. Morton, Kristen Rasmussen, Jane L. Schuette, Stuart Schwartz, David T. Miller

    Vydáno 2018
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  9. 9
    16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome

    16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome Autor Aiko Iwata‐Otsubo, Alyssa L. Rippert, Jorune Balciuniene, Sarah K. Fiordaliso, Robert Chen, Preetha Markose, Cara Skraban, Christopher Gray, Elaine H. Zackai, Holly Dubbs, Matthew A. Deardorff, Laura K. Conlin, Kosuke Izumi

    Vydáno 2025
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  10. 10
    Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

    Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome Autor Jennifer M. Kalish, Kara E. Boodhansingh, Tricia R. Bhatti, Arupa Ganguly, Laura K. Conlin, Susan Becker, Stephanie Givler, Lindsey Mighion, Andrew Palladino, N. Scott Adzick, Diva D. De León, Charles A. Stanley, Matthew A. Deardorff

    Vydáno 2015
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  11. 11
    Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

    Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy Autor Jorune Balciuniene, Elizabeth T. DeChene, Gozde Akgumus, Edward J. Romasko, Kajia Cao, Holly Dubbs, Surabhi Mulchandani, Nancy B. Spinner, Laura K. Conlin, Eric D. Marsh, Ethan M. Goldberg, Ingo Helbig, Mahdi Sarmady, Ahmad Abou Tayoun

    Vydáno 2019
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  12. 12
    Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i>

    Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i> Autor Rebecca C. Ahrens‐Nicklas, George K. E. Umanah, Neal Sondheimer, Matthew A. Deardorff, Alisha Wilkens, Laura K. Conlin, Avni Santani, Addie I. Nesbitt, Jane Juulsola, Erica Ma, Ted M. Dawson, Valina L. Dawson, Eric D. Marsh

    Vydáno 2017
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  13. 13
    Genome‐wide SNP genotyping identifies the <i>Stereocilin</i> (<i>STRC</i>) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

    Genome‐wide SNP genotyping identifies the <i>Stereocilin</i> (<i>STRC</i>) gene as a major contributor to pediatric bilateral sensorineural hearing impairment Autor Lauren J. Francey, Laura K. Conlin, Hanna E. Kadesch, Dinah Clark, Donna Berrodin, Yi Sun, Joseph Glessner, Hákon Hákonarson, Chaim Jalas, C. Landau, Nancy B. Spinner, Margaret A. Kenna, Michal Sagi, Heidi L. Rehm, Ian D. Krantz

    Vydáno 2011
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  14. 14
    SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

    SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation Autor Binita M. Kamath, Brian Thiel, Xiaowu Gai, Laura K. Conlin, Pedro S Munoz, Joseph Glessner, Dinah Clark, Daniel M. Warthen, Tamim H. Shaikh, Ercan Mıhçı, David A. Piccoli, Struan F.A. Grant, Hákon Hákonarson, Ian D. Krantz, Nancy B. Spinner

    Vydáno 2008
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  15. 15
    Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

    Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure Autor Surabhi Mulchandani, Elizabeth Bhoj, Minjie Luo, Nina Powell‐Hamilton, Kim Jenny, Karen W. Gripp, Miriam Elbracht, Thomas Eggermann, Claire Turner, I. Karen Temple, Deborah Mackay, Holly Dubbs, David A. Stevenson, Leah Slattery, Elaine H. Zackai, Nancy B. Spinner, Ian D. Krantz, Laura K. Conlin

    Vydáno 2015
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  16. 16
    Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy

    Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy Autor Jennifer M. Kalish, Laura K. Conlin, Tricia R. Bhatti, Holly Dubbs, Mary Catherine Harris, Kosuke Izumi, Sogol Mostoufi‐Moab, Surabhi Mulchandani, Sulagna C. Saitta, Lisa J. States, Daniel T. Swarr, Alisha Wilkens, Elaine H. Zackai, Kristin Zelley, Marisa S. Bartolomei, Kim E. Nichols, Andrew Palladino, Nancy B. Spinner, Matthew A. Deardorff

    Vydáno 2013
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  17. 17
    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders Autor Yousra El Ghaleb, Pauline E. Schneeberger, Monica L. Fernández‐Quintero, Stefanie M. Geisler, Simone Pelizzari, Abeltje M. Polstra, Johanna M. van Hagen, Jonas Denecke, Marta Campiglio, Klaus R. Liedl, Cathy A. Stevens, Richard Person, Stefan Rentas, Eric D. Marsh, Laura K. Conlin, Petronel Tuluc, Kerstin Kutsche, Bernhard E. Flucher

    Vydáno 2021
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  18. 18
    Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

    Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization Autor Cheryl DeScipio, Laura K. Conlin, Jill A. Rosenfeld, James Tepperberg, Romela Pasion, Ankita Patel, Marie McDonald, Swaroop Aradhya, Darlene Ho, Jennifer Goldstein, Marianne McGuire, Surabhi Mulchandani, Līvija Medne, Rosemarie Rupps, Alvaro Serrano, Erik C. Thorland, Anne Chun‐Hui Tsai, Yvonne Hilhorst‐Hofstee, Claudia Ruivenkamp, Hilde Van Esch, Marie‐Claude Addor, Danielle Martinet, Thornton B.A. Mason, Dinah Clark, Nancy B. Spinner, Ian D. Krantz

    Vydáno 2012
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  19. 19
    Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

    Automated Clinical Exome Reanalysis Reveals Novel Diagnoses Autor Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Zhenming Yu, Elizabeth Denenberg, Elizabeth T. DeChene, Alisha Wilkens, Elizabeth Bhoj, Qiaoning Guan, Matthew C. Dulik, Laura K. Conlin, Ahmad Abou Tayoun, Minjie Luo, Chao Wu, Kajia Cao, Mahdi Sarmady, Emma Bedoukian, Jennifer Tarpinian, Līvija Medne, Cara Skraban, Matthew A. Deardorff, Ian D. Krantz, Bryan L. Krock, Avni Santani

    Vydáno 2018
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  20. 20
    Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

    Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium Autor Laura M. Amendola, Gail P. Jarvik, Michael C. Leo, Heather M. McLaughlin, Yassmine Akkari, Michelle D. Amaral, Jonathan S. Berg, Sawona Biswas, Kevin M. Bowling, Laura K. Conlin, Gregory M. Cooper, Michael O. Dorschner, Matthew C. Dulik, Arezou A. Ghazani, Rajarshi Ghosh, Robert C. Green, Ragan Hart, Carolyn Horton, Jennifer J. Johnston, Matthew S. Lebo, Aleksandar Milosavljevic, Jeffrey Ou, Christine M. Pak, Ronak Y. Patel, Sumit Punj, Carolyn Sue Richards, Joseph S Salama, Natasha T. Strande, Yaping Yang, Sharon E. Plon, Leslie G. Biesecker, Heidi L. Rehm

    Vydáno 2016
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