Хайлтын үр дүнгүүд - Tony Roscioli

Үр дүнг сайжруулах
  1. 1
    Rare mutations of<i>FGFR2</i>causing apert syndrome: identification of the first partial gene deletion, and an<i>Alu</i>element insertion from a new subfamily

    Rare mutations of<i>FGFR2</i>causing apert syndrome: identification of the first partial gene deletion, and an<i>Alu</i>element insertion from a new subfamily -н Elena G. Bochukova, Tony Roscioli, Dale J. Hedges, Indira B. Taylor, David Johnson, David J. David, Prescott L. Deininger, Andrew O.M. Wilkie

    Хэвлэсэн 2008
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    Artigo
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  2. 2
    Novel motor phenotypes in patients with <i>VRK1</i> mutations without pontocerebellar hypoplasia

    Novel motor phenotypes in patients with <i>VRK1</i> mutations without pontocerebellar hypoplasia -н Marion Stoll, Hooi‐Ling Teoh, James Lee, Stephen Reddel, Ying Zhu, Michael F. Buckley, Hugo Sampaio, Tony Roscioli, Michelle A. Farrar, Garth A. Nicholson

    Хэвлэсэн 2016
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  3. 3
    ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

    ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data -н André E. Minoche, Ben Lundie, Greg B. Peters, Thomas Ohnesorg, Mark Pinese, David M. Thomas, Andreas Zankl, Tony Roscioli, Nicole Schönrock, Sarah Kummerfeld, Leslie Burnett, Marcel E. Dinger, Mark J. Cowley

    Хэвлэсэн 2021
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  4. 4
    Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

    Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation -н Peter Krawitz, Yoshiko Murakami, Jochen Hecht, Ulrike Krüger, Susan Holder, Geert Mortier, Barbara Delle Chiaie, Elfride De Baere, Miles D. Thompson, Tony Roscioli, Szymon M. Kiełbasa, Taroh Kinoshita, Stefan Mundlos, Peter N. Robinson, Denise Horn

    Хэвлэсэн 2012
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  5. 5
    Schaaf‐Yang syndrome overview: Report of 78 individuals

    Schaaf‐Yang syndrome overview: Report of 78 individuals -н John McCarthy, Philip J. Lupo, Erin Kovar, Megan Rech, Bret L. Bostwick, Daryl A. Scott, Katerina Kraft, Tony Roscioli, Joel Charrow, Samantha A. Schrier Vergano, Edward J. Lose, Robert Smiegel, Yves Lacassie, Christian P. Schaaf

    Хэвлэсэн 2018
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  6. 6
    Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease

    Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease -н Tony Roscioli, Simon T. Cliffe, Donald B. Bloch, Christopher G. Bell, Glenda Mullan, Peter J. Taylor, Maria Sarris, Joanne Wang, Jennifer A. Donald, Edwin P. Kirk, John B. Ziegler, Ulrich Salzer, George B. McDonald, Melanie Wong, Robert Lindeman, Michael F. Buckley

    Хэвлэсэн 2006
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  7. 7
    A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy

    A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy -н Sushmitha Gururaj, Elizabeth E. Palmer, Garrett D. Sheehan, Tejaswi Kandula, Rebecca Macintosh, Kevin Ying, Paula Morris, Tao Jiang, Kerith‐Rae Dias, Ying Zhu, Marcel E. Dinger, Mark J. Cowley, Edwin P. Kirk, Tony Roscioli, Rani Sachdev, Michael E. Duffey, Ann Bye, Arin Bhattacharjee

    Хэвлэсэн 2017
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  8. 8
    Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

    Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome -н Karen Buysse, Moniek Riemersma, Gareth T. Powell, Jeroen van Reeuwijk, David Chitayat, Tony Roscioli, Erik‐Jan Kamsteeg, Christa van den Elzen, Ellen van Beusekom, Susan Blasér, Riyana Babul‐Hirji, W Halliday, Gavin J. Wright, Derek L. Stemple, Yung‐Yao Lin, Dirk J. Lefeber, Hans van Bokhoven

    Хэвлэсэн 2013
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  9. 9
    Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine

    Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine -н Elizabeth E. Palmer, Jaclyn N. Hayner, Rani Sachdev, Michael Cardamone, Tejaswi Kandula, Paula Morris, Kerith‐Rae Dias, Tao Jiang, David F. Miller, Ying Zhu, Rebecca Macintosh, Marcel E. Dinger, Mark J. Cowley, Michael F. Buckley, Tony Roscioli, Ann Bye, Michael S. Kilberg, Edwin P. Kirk

    Хэвлэсэн 2015
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  10. 10
    Exome sequencing provides additional evidence for the involvement of <i>ARHGAP29</i> in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate

    Exome sequencing provides additional evidence for the involvement of <i>ARHGAP29</i> in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate -н Huan Liu, Tamara Busch, Steven Eliason, Deepti Anand, Steven A. Bullard, Lord J. J. Gowans, Nichole Nidey, Aline Petrin, Eno‐Abasi Augustine‐Akpan, Irfan Saadi, Martine Dunnwald, Salil A. Lachke, Ying Zhu, Adebowale Adeyemo, Brad A. Amendt, Tony Roscioli, Robert A. Cornell, Jeffrey C. Murray, Azeez Butali

    Хэвлэсэн 2016
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  11. 11
    Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

    Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders -н Lisa Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P. Kirk, Alison Colley, Carolyn Ellaway, Anne Turner, David Mowat, Lisa Worgan, Mary‐Louise Freckmann, Michelle Lipke, Rani Sachdev, David T. Miller, Michael Field, Marcel E. Dinger, Michael F. Buckley, Mark J. Cowley, Tony Roscioli

    Хэвлэсэн 2018
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  12. 12
    SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

    SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway -н Simon T. Cliffe, Jamie M. Kramer, Khalid Hussain, Joris H. Robben, Eiko K. de Jong, Arjan Pm de Brouwer, Esther Nibbeling, Erik‐Jan Kamsteeg, Melanie Wong, Julie Prendiville, Chela James, Raja Padidela, Charlie Becknell, Hans van Bokhoven, Peter M.T. Deen, Raoul C. M. Hennekam, Robert Lindeman, Annette Schenck, Tony Roscioli, Michael F. Buckley

    Хэвлэсэн 2009
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  13. 13
    Mutations in the interleukin receptor <i><scp>IL</scp>11<scp>RA</scp></i> cause autosomal recessive Crouzon‐like craniosynostosis

    Mutations in the interleukin receptor <i><scp>IL</scp>11<scp>RA</scp></i> cause autosomal recessive Crouzon‐like craniosynostosis -н Katharina Keupp, Yun Li, İbrahim Vargel, Alexander Hoischen, Rebecca J. Richardson, Kornelia Neveling, Yasemin Alanay, Elif Uz, Nursel Elcioğlu, Martin Rachwalski, Soner Kamaci, Gökhan Tunçbi̇lek, Burcu Akin, Joachim Grötzinger, Ersoy Konaş, Emin Mavili, Gerhard Müller‐Newen, H. Collmann, Tony Roscioli, Michael F. Buckley, Gökhan Yigit, Christian Gilissen, Wolfram Kreß, Joris A. Veltman, Matthias Hammerschmidt, Nurten Akarsu, Bernd Wollnik

    Хэвлэсэн 2013
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  14. 14
    Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

    Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice -н Lisenka E.L.M. Vissers, Timothy C. Cox, A. Murat Maga, Kieran M. Short, Fenny Wiradjaja, Irene M. Janssen, Fernanda Sarquis Jehee, Débora Romeo Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L. Cunningham, Peter J. Anderson, Simeon A. Boyadjiev, Maria Rita Passos‐Bueno, Joris A. Veltman, Ian Smyth, Michael F. Buckley, Tony Roscioli

    Хэвлэсэн 2011
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  15. 15
    Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

    Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome -н Simon T. Cliffe, Donald B. Bloch, Santi Suryani, Erik‐Jan Kamsteeg, Danielle T. Avery, Umaimainthan Palendira, Joseph A. Church, Brynn Wainstein, Antonino Trizzino, Marie‐Paule Lefranc, C Akatchérian, André Mégarbané, Christian Gilissen, Despina Moshous, Janine Reichenbach, Siraj Misbah, U. Salzer, Mario Abinun, Peck Y. Ong, Polina Stepensky, Ezia Ruga, John B. Ziegler, Melanie Wong, Stuart G. Tangye, Robert Lindeman, Michael F. Buckley, Tony Roscioli

    Хэвлэсэн 2012
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  16. 16
    Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

    Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness -н Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, John A. Lawson, Ian Andrews, Hugo Sampaio, Alexandra Johnson, Michelle A. Farrar, Michael Cardamone, David Mowat, George Elakis, William Lo, Ying Zhu, Kevin Ying, Paula Morris, Tao Jiang, Kerith‐Rae Dias, Michael F. Buckley, Marcel E. Dinger, Mark J. Cowley, Tony Roscioli, Edwin P. Kirk, Ann Bye, Rani Sachdev

    Хэвлэсэн 2018
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  17. 17
    Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

    Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus -н Evelyn N. Kouwenhoven, Simon J. van Heeringen, Juan J. Tena, Martin Oti, Bas E. Dutilh, M. Eva Alonso, Elisa de la Calle‐Mustienes, Leonie Smeenk, Tuula Rinne, Lilian Parsaulian, Emine Bolat, Rasa Jurgelenaite, Martijn A. Huynen, Alexander Hoischen, Joris A. Veltman, Han G. Brunner, Tony Roscioli, Emily C. Oates, Meredith Wilson, Miguel Manzanares, José Luis Gómez-Skármeta, Hendrik G. Stunnenberg, Marion Lohrum, Hans van Bokhoven, Huiqing Zhou

    Хэвлэсэн 2010
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  18. 18
    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

    Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”) -н Edwin P. Kirk, Royston Ong, Kirsten Boggs, Tristan Hardy, Sarah Righetti, Ben Kamien, Tony Roscioli, David J. Amor, Madhura Bakshi, Clara W. T. Chung, Alison Colley, Robyn V. Jamieson, Jan Liebelt, Alan Ma, Nicholas Pachter, Sulekha Rajagopalan, Anja Ravine, Meredith Wilson, Jade Caruana, Rachael Casella, Mark R. Davis, Samantha Edwards, Alison D. Archibald, Julie McGaughran, Ainsley J. Newson, Nigel G. Laing, Martin B. Delatycki

    Хэвлэсэн 2020
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  19. 19
    De novo mutations in PLXND1 and REV3L cause Möbius syndrome

    De novo mutations in PLXND1 and REV3L cause Möbius syndrome -н Laura Tomás‐Roca, Anastasia Tsaalbi‐Shtylik, Jacob G. Jansen, Manvendra K. Singh, Jonathan A. Epstein, Umut Altunoğlu, H. T. F. M. Verzijl, Laura Soria, Ellen van Beusekom, Tony Roscioli, Zafar Iqbal, Christian Gilissen, Alexander Hoischen, Arjan P.M. de Brouwer, Corrie E. Erasmus, Dirk Schubert, Han G. Brunner, Antonio Pérez Aytés, Faustino Marı́n, Pilar Aroca, Hülya Kayserili, Arturo Carta, Niels de Wind, George W. Padberg, Hans van Bokhoven

    Хэвлэсэн 2015
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  20. 20
    Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

    Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis -н Lisa Ewans, André E. Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander P. Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C. Adès, Alison Colley, Carolyn Ellaway, Carey‐Anne Evans, Mary‐Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P. Kirk, Michelle Lipke, David Mowat, Elizabeth E. Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie‐Christine Morel‐Kopp, Michael Field, Michael F. Buckley, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli

    Хэвлэсэн 2022
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