檢索結果 - Dimitar N. Azmanov

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  1. 1
    Transcriptome-wide effects of a<i>POLR3A</i>gene mutation in patients with an unusual phenotype of striatal involvement

    Transcriptome-wide effects of a<i>POLR3A</i>gene mutation in patients with an unusual phenotype of striatal involvement 由 Dimitar N. Azmanov, Stefan J. Siira, Teodora Chamova, Ara Kaprelyan, Velina Guergueltcheva, Anne-Marie J. Shearwood, Ganqiang Liu, Bharti Morar, Oliver Rackham, Michael Bynevelt, Маргарита Грудкова, Zdravko Kamenov, Vassil Svechtarov, Ivailo Tournev, Luba Kalaydjieva, Aleksandra Filipovska

    出版 2016
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  2. 2
    Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

    Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy 由 Mark Corbett, Clare L. van Eyk, Dani L. Webber, Stephen J. Bent, Morgan Newman, Kelly Harper, Jesia G. Berry, Dimitar N. Azmanov, Karen Woodward, Alison Gardner, Jennie Slee, Luis A. Pérez‐Jurado, Alastair H. MacLennan, Jozef Gécz

    出版 2018
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  3. 3
    Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

    Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1 由 Velina Guergueltcheva, Dimitar N. Azmanov, Dora Angelicheva, Katherine R. Smith, Teodora Chamova, Laura V. Flórez, Michael Bynevelt, Thai B. Nguyen, Sylvia Cherninkova, Veneta Bojinova, Ara Kaprelyan, Lyudmila Angelova, Bharti Morar, David Chandler, Radka Kaneva, Melanie Bahlo, Ivailo Tournev, Luba Kalaydjieva

    出版 2012
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  4. 4
    LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

    LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population 由 Dimitar N. Azmanov, С. Димитрова, Laura V. Flórez, Sylvia Cherninkova, Dragomir Draganov, Bharti Morar, Rosmawati Saat, Manel Juan, Juan I. Aróstegui, Sriparna Ganguly, Himla Soodyall, Subhabrata Chakrabarti, Harish Padh, Miguel Ángel López‐Nevot, Violeta Chernodrinska, Botio Anguelov, Partha P. Majumder, Lyudmila Angelova, Radka Kaneva, David A. Mackey, Ivailo Tournev, Luba Kalaydjieva

    出版 2010
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  5. 5
    Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

    Null Mutations in LTBP2 Cause Primary Congenital Glaucoma 由 Manir Ali, Martin McKibbin, Adam Booth, David Parry, Payal Jain, Sheikh Riazuddin, J. Fielding Hejtmancik, Shaheen N. Khan, Sabika Firasat, Mike Shires, David F. Gilmour, Katherine V. Towns, Anna-Louise Murphy, Dimitar N. Azmanov, Ivailo Tournev, Sylvia Cherninkova, Hussain Jafri, Yasmin Raashid, Carmel Toomes, Jamie E. Craig, David A. Mackey, Luba Kalaydjieva, Sheikh Riazuddin, Chris F. Inglehearn

    出版 2009
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  6. 6
    Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

    Angiopoietin-1 is required for Schlemm’s canal development in mice and humans 由 Benjamin R. Thomson, Tomokazu Souma, Stuart W. Tompson, Tuncer Onay, Krishnakumar Kizhatil, Owen M. Siggs, Liang Feng, Kristina N. Whisenhunt, Tammy L. Yanovitch, Luba Kalaydjieva, Dimitar N. Azmanov, Simone Finzi, Christine E. Tanna, Alex W. Hewitt, David A. Mackey, Yasmin S. Bradfield, Emmanuelle Souzeau, Shari Javadiyan, Janey L. Wiggs, Francesca Pasutto, Xiaorong Liu, Simon W. M. John, Jamie E. Craig, Jing Jin, Terri L. Young, Susan E. Quaggin

    出版 2017
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  7. 7
    Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

    Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity 由 Tomokazu Souma, Stuart W. Tompson, Benjamin R. Thomson, Owen M. Siggs, Krishnakumar Kizhatil, Shinji Yamaguchi, Liang Feng, Vachiranee Limviphuvadh, Kristina N. Whisenhunt, Sebastian Maurer‐Stroh, Tammy L. Yanovitch, Luba Kalaydjieva, Dimitar N. Azmanov, Simone Finzi, Lucia Mauri, Shahrbanou Javadiyan, Emmanuelle Souzeau, Tiger Zhou, Alex W. Hewitt, Bethany A. Kloss, Kathryn P. Burdon, David A. Mackey, Keri F. Allen, Jonathan B. Ruddle, Sing-Hui Lim, Steve Rozen, Khanh-Nhat Tran-Viet, Xiaorong Liu, Simon W. M. John, Janey L. Wiggs, Francesca Pasutto, Jamie E. Craig, Jing Jin, Susan E. Quaggin, Terri L. Young

    出版 2016
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  8. 8
    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders 由 Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković

    出版 2021
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  9. 9
    Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

    Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders 由 Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckevičienė, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Delphine Héron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković

    出版 2022
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