نتائج البحث - Dianne Gerrelli

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  1. 1
    Enabling research with human embryonic and fetal tissue resources

    Enabling research with human embryonic and fetal tissue resources حسب Dianne Gerrelli, Steven Lisgo, Andrew J. Copp, Susan Lindsay

    منشور في 2015
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    Artigo
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  2. 2
    FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder

    FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder حسب Cecilia Lai, Dianne Gerrelli, Anthony P. Monaco, Simon E. Fisher, Andrew J. Copp

    منشور في 2003
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    Artigo
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  3. 3
    Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects

    Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects حسب Nicholas D. E. Greene, Dianne Gerrelli, H. W. M. van Straaten, Andrew J. Copp

    منشور في 1998
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    Artigo
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  4. 4
    Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

    Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling حسب Sara Tomaselli, Francesca Megiorni, Lin Lin, Maria Cristina Mazzilli, Dianne Gerrelli, Silvia Majore, Paola Grammatico, John C. Achermann

    منشور في 2011
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    Artigo
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  5. 5
    Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure

    Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure حسب Patricia Ybot‐González, Dawn Savery, Dianne Gerrelli, Massimo Signore, C. MITCHELL, Clare Faux, Nicholas D. E. Greene, Andrew J. Copp

    منشور في 2007
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    Artigo
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  6. 6
    A genomic atlas of human adrenal and gonad development

    A genomic atlas of human adrenal and gonad development حسب Ignacio del Valle, Federica Buonocore, Andrew Duncan, Lin Lin, Martino Barenco, Rahul Parnaik, Sonia Shah, Michael Hubank, Dianne Gerrelli, John C. Achermann

    منشور في 2017
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    Pré-impressão
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  7. 7
    Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

    Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss حسب A Rajab, Daniel Kelberman, Sandra C. de Castro, Heike Biebermann, Hiba Arshad Shaikh, Karma Pearce, C. M. Hall, Guftar Shaikh, Dianne Gerrelli, Annette Grueters, Heiko Krude, Mehul Dattani

    منشور في 2008
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    Artigo
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  8. 8
    HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development

    HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development حسب Susan Lindsay, Yaobo Xu, Steven Lisgo, Lauren F. Harkin, Andrew J. Copp, Dianne Gerrelli, Gavin J. Clowry, Aysha Talbot, Michael J. Keogh, Jonathan Coxhead, Mauro Santibanez‐Koref, Patrick F. Chinnery

    منشور في 2016
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    Artigo
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  9. 9
    Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

    Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis حسب Sek‐Shir Cheong, Lisa Hentschel, Alice E. Davidson, Dianne Gerrelli, Rebecca Davie, Roberta Rizzo, Nikolas Pontikos, Vincent Plagnol, Anthony T. Moore, Jane C. Sowden, Michel Michaelides, Martin P. Snead, Stephen J. Tuft, Alison J. Hardcastle

    منشور في 2016
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    Artigo
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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 حسب 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

    منشور في 2009
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    Artigo
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  11. 11
    The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

    The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation حسب Helen R. Dawe, Ursula M. Smith, Andrew R. Cullinane, Dianne Gerrelli, P. Cox, José L. Badano, Sarah Blair-Reid, Nisha Sriram, Nicholas Katsanis, Tania Attié‐Bitach, Simon C. Afford, Andrew J. Copp, Déirdre Kelly, Keith Gull, Colin A. Johnson

    منشور في 2006
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    Artigo
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  12. 12
    Novel<i>FGF8</i>Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

    Novel<i>FGF8</i>Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction حسب Mark J. McCabe, Carles Gaston‐Massuet, Vaitsa Tziaferi, Louise Gregory, Kyriaki S. Alatzoglou, Massimo Signore, Eduardo Puelles, Dianne Gerrelli, I. Sadaf Farooqi, Jamal Raza, Joanna Walker, Scott I. Kavanaugh, Pei‐San Tsai, Nelly Pitteloud, Juan Pedro Martı́nez-Barberá, Mehul Dattani

    منشور في 2011
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    Artigo
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  13. 13
    Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

    Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability حسب A. T. Pagnamenta, Hamza Khan, Susan Walker, Dianne Gerrelli, Kirsty Wing, María Clara Bonaglia, Roberto Giorda, T. P. Berney, Elisa Mani, Massimo Molteni, Dalila Pinto, Ann Le Couteur, Joachim Hallmayer, James S. Sutcliffe, Peter Szatmari, Andrew D. Paterson, Stephen W. Scherer, Veronica J. Vieland, Anthony P. Monaco

    منشور في 2010
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    Artigo
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  14. 14
    Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

    Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene حسب Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa Lees, Meenakshi Bhat, Peter Hammond, Raoul C. M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David H. Johnson, Alexis Robinson, Peter Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, Andrew O.M. Wilkie

    منشور في 2009
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    Artigo
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  15. 15
    SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

    SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development حسب Daniel Kelberman, Sandra C. de Castro, Shuwen Huang, John A. Crolla, Rodger Palmer, John W. Gregory, David Taylor, Luciano Cavallo, Maria Felicia Faienza, Rita Fischetto, John C. Achermann, Juan Pedro Martı́nez-Barberá, Karine Rizzoti, Robin Lovell‐Badge, Iain C. A. F. Robinson, Dianne Gerrelli, Mehul Dattani

    منشور في 2008
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    Artigo
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  16. 16
    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 حسب 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

    منشور في 2008
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    Artigo
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  17. 17
    Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum

    Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum حسب Parthiv Haldipur, Kimberly A. Aldinger, Silvia Bernardo, Mei Deng, Andrew E. Timms, Lynne M. Overman, Conrad Winter, Steven Lisgo, Razavi, Evelina Silvestri, Lucia Manganaro, Homa Adle‐Biassette, Fabien Guimiot, Rosa Russo, Debora Kidron, Patrick R. Hof, Dianne Gerrelli, Susan Lindsay, William B. Dobyns, Ian Glass, Paula Alexandre, Kathleen J. Millen

    منشور في 2019
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  18. 18
    Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

    Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations حسب 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

    منشور في 2005
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    Artigo
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  19. 19
    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 حسب 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

    منشور في 2019
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    Artigo
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  20. 20
    Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome

    Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome حسب Gilad D. Evrony, Dwight R. Cordero, Jun Shen, Jennifer N. Partlow, Timothy W. Yu, Rachel E. Rodin, Robert Hill, Michael E. Coulter, Anh-Thu N. Lam, Divya Jayaraman, Dianne Gerrelli, Diana Gold Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, Marie-Jocelyne Martel, Betty Anne Spooner, Steven C. Ryu, Princess C. Elhosary, Jillian M. Richardson, Danielle Tierney, Christopher A. Robinson, Rajni Chibbar, Dana Diudea, Rebecca D. Folkerth, Sheldon Wiebe, A. James Barkovich, Ganeshwaran H. Mochida, James Irvine, Edmond G. Lemire, Patricia M. Blakley, Christopher A. Walsh

    منشور في 2017
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