Risultati della ricerca - Nicola Ragge

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  1. 1
    A practical guide to the management of anophthalmia and microphthalmia

    A practical guide to the management of anophthalmia and microphthalmia di Nicola Ragge, I D Subak-Sharpe, J. R. O. Collin

    Pubblicazione 2007
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  2. 2
    Images of Lisch nodules across the spectrum

    Images of Lisch nodules across the spectrum di Nicola Ragge, Rena E. Falk, Warren E Cohen, A. Linn Murphree

    Pubblicazione 1993
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  3. 3
    Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

    Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia di Julie Plaisancié, Fabiola Ceroni, Richard Holt, Celia Zazo Seco, Patrick Calvas, Nicolas Chassaing, Nicola Ragge

    Pubblicazione 2019
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  4. 4
    Anophthalmos, Microphthalmos, and Typical Coloboma in the United Kingdom: A Prospective Study of Incidence and Risk

    Anophthalmos, Microphthalmos, and Typical Coloboma in the United Kingdom: A Prospective Study of Incidence and Risk di Shaheen P. Shah, Amy E. Taylor, Jane C. Sowden, Nicola Ragge, Isabelle Russell‐Eggitt, Jugnoo S. Rahi, Clare Gilbert

    Pubblicazione 2010
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  5. 5
    Language networks in anophthalmia: maintained hierarchy of processing in ‘visual’ cortex

    Language networks in anophthalmia: maintained hierarchy of processing in ‘visual’ cortex di Kate E. Watkins, Alan Cowey, Iona Alexander, Nicola Filippini, James Kennedy, Stephen M. Smith, Nicola Ragge, Holly Bridge

    Pubblicazione 2012
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  6. 6
    Early Auditory Processing in Area V5/MT+ of the Congenitally Blind Brain

    Early Auditory Processing in Area V5/MT+ of the Congenitally Blind Brain di Kate E. Watkins, Timothy J. Shakespeare, M Clare O'Donoghue, Iona Alexander, Nicola Ragge, Alan Cowey, Holly Bridge

    Pubblicazione 2013
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  7. 7
    Role of<i>SOX2</i>Mutations in Human Hippocampal Malformations and Epilepsy

    Role of<i>SOX2</i>Mutations in Human Hippocampal Malformations and Epilepsy di Sanjay M. Sisodiya, Nicola Ragge, Gianpiero L. Cavalleri, Ann Hever, Birgit Lorenz, Adele Schneider, Kathleen A. Williamson, John Stevens, S. L. Free, Pamela J. Thompson, Veronica van Heyningen, David Fitzpatrick

    Pubblicazione 2006
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  8. 8
    Mutations in SOX2 cause anophthalmia

    Mutations in SOX2 cause anophthalmia di Judy Fantes, Nicola Ragge, Sally Ann Lynch, Niolette I. McGill, J. R. O. Collin, Patricia N. Howard‐Peebles, Caroline Hayward, Anthony J. Vivian, Kathy Williamson, Veronica van Heyningen, David Fitzpatrick

    Pubblicazione 2003
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  9. 9
    Novel heterozygous<i>OTX2</i>mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

    Novel heterozygous<i>OTX2</i>mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma di Alexander W. Wyatt, Preeti Bakrania, David J. Bunyan, Robert J. Osborne, John A. Crolla, Alison Salt, Carmen Ayuso, Ruth Newbury‐Ecob, Yassir Abou-Rayyah, J. R. O. Collin, David Robinson, Nicola Ragge

    Pubblicazione 2008
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  10. 10
    Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

    Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators di Gaia Gestri, Robert J. Osborne, Alexander W. Wyatt, Dianne Gerrelli, Susan Gribble, Helen Stewart, Alan Fryer, David J. Bunyan, Katrina Prescott, J. R. O. Collin, Tomas Fitzgerald, David Robinson, Nigel P. Carter, Stephen W. Wilson, Nicola Ragge

    Pubblicazione 2009
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  11. 11
    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia di Myriam Srour, David Chitayat, Véronique Caron, Nicolas Chassaing, Pierre Bitoun, Lysanne Patry, Marie‐Pierre Cordier, José‐Mario Capo‐Chichi, Christine Francannet, Patrick Calvas, Nicola Ragge, Sylvia Dobrzeniecka, Fadi F. Hamdan, Guy A. Rouleau, André Tremblay, Jacques L. Michaud

    Pubblicazione 2013
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  12. 12
    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia di Lucas Fares‐Taie, S. Gerber, Nicolas Chassaing, Jill Clayton‐Smith, Sylvain Hanein, Eduardo Silva, Margaux Serey, Valérie Serre, Xavier Gérard, Clarisse Baumann, Ghislaine Plessis, Bénédicte Demeer, Lionel Brétillon, Christine Bole, Patrick Nitschké, Arnold Münnich, Stanislas Lyonnet, Patrick Calvas, Josseline Kaplan, Nicola Ragge, Jean‐Michel Rozet

    Pubblicazione 2013
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  13. 13
    SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

    SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions di Preeti Bakrania, David Robinson, David J. Bunyan, Alison Salt, Angela Martin, John A. Crolla, Alexander W. Wyatt, Alistair R. Fielder, John Ainsworth, Anthony T. Moore, Steven P. Read, Jimmy Uddin, D Laws, Dora Pascuel-Salcedo, Carmen Ayuso, Louise Allen, J. R. O. Collin, Nicola Ragge

    Pubblicazione 2007
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  14. 14
    <i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia

    <i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia di Jennifer J. Johnston, Kathleen A. Williamson, Christopher M. Chou, Julie C. Sapp, Morad Ansari, Heather Chapman, D.N. Cooper, Tabib Dabir, Jeffrey N. Dudley, Richard Holt, Nicola Ragge, Alejandro A. Schäffer, Shurjo K. Sen, Anne Slavotinek, David Fitzpatrick, Thomas Gläser, Fiona Stewart, Graeme Black, Leslie G. Biesecker

    Pubblicazione 2019
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  15. 15
    Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

    Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways di Preeti Bakrania, Maria Efthymiou, Johannes Klein, Alison Salt, David J. Bunyan, Alex Wyatt, Chris P. Ponting, Angela Martin, Steven E. Williams, Victoria Lindley, Joanne Gilmore, Marie Restori, Anthony G. Robson, M. Neveu, Graham E. Holder, J. R. O. Collin, David Robinson, Peter Farndon, Heidi Johansen‐Berg, Dianne Gerrelli, Nicola Ragge

    Pubblicazione 2008
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  16. 16
    Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

    Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations di Nicola Ragge, Alison G. M. Brown, Charlotte M. Poloschek, Birgit Lorenz, Richard A. Henderson, Michael W. Clarke, Isabelle Russell‐Eggitt, Alistair R. Fielder, Dianne Gerrelli, Juan Pedro Martı́nez-Barberá, Piers Ruddle, Jane A. Hurst, J. R. O. Collin, Alison Salt, Simon Timothy Cooper, Pamela J. Thompson, Sanjay M. Sisodiya, Kathleen A. Williamson, David Fitzpatrick, Veronica van Heyningen, Isabel M. Hanson

    Pubblicazione 2005
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  17. 17
    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes di Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogné, Wallid Deb, Marie Vincent, Jessica Le Gall, Jenny Morton, Derek Lim, Guylène Le Meur, Celia Zazo Seco, Dimitra Zafeiropoulou, Dorine A. Bax, Petra Zwijnenburg, Ana Arteche‐López, Saoud Tahsin Swafiri, Ruth Cleaver, Meriel McEntagart, Usha Kini, William D. Newman, Carmen Ayuso, Marta Cortón, Yvan Herenger, Médéric Jeanne, Patrick Calvas, Nicolas Chassaing

    Pubblicazione 2018
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  18. 18
    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome di Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C. Herkert, Elysa J. Marco, Marjolein H. Willemsen, Tjitske Kleefstra, Mark C. Hannibal, Joseph T.C. Shieh, Sally Ann Lynch, Frances Flinter, David Fitzpatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury‐Ecob, Raphael Bernier, Malin Kvarnung, Elin Magnusson, Marja W. Wessels, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Petra de Vries, Joris A. Veltman, Christopher J. Lord, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Pubblicazione 2017
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  19. 19
    The clinical, biochemical and genetic features associated with<i>RMND1</i>-related mitochondrial disease

    The clinical, biochemical and genetic features associated with<i>RMND1</i>-related mitochondrial disease di Yi Shiau Ng, Charlotte L. Alston, Daria Diodato, Andrew A. M. Morris, Nicole Ulrick, Stanislav Kmoch, J Houštěk, Diego Martinelli, Alireza Haghighi, Mehnaz Atiq, Montserrat Antón-Gamero, Elena García‐Martínez, Hana Kratochvílová, Saikat Santra, Ruth M. Brown, Garry K. Brown, Nicola Ragge, Ahmad Monavari, Karen Pysden, Kirstine Ravn, Jillian P. Casey, Arif Khan, Anupam Chakrapani, Grace Vassallo, Cas Simons, Karl McKeever, Siobhán O’Sullivan, Anne-Marie Childs, Elsebet Østergaard, Adeline Vanderver, Amy B. Goldstein, Julie Vogt, Robert W. Taylor, Robert McFarland

    Pubblicazione 2016
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  20. 20
    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies di Richard Holt, Rodrigo Young, Berta Crespo, Fabiola Ceroni, Cynthia J. Curry, Emanuele Bellacchio, Dorine A. Bax, Andrea Ciolfi, Marleen Simon, Christina Fagerberg, Ellen van Binsbergen, Alessandro De Luca, Luigi Memo, William B. Dobyns, Alaa Afif Mohammed, Samuel Clokie, Celia Zazo Seco, Yong-hui Jiang, Kristina P. Sørensen, Helle Andersen, Jennifer A. Sullivan, Zöe Powis, Anna Chassevent, Constance Smith‐Hicks, Slavé Petrovski, Thalia Antoniadi, Vandana Shashi, Bruce D. Gelb, Stephen W. Wilson, Dianne Gerrelli, Marco Tartaglia, Nicolas Chassaing, Patrick Calvas, Nicola Ragge

    Pubblicazione 2019
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