Search Results - Neeti Ghali

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  1. 1
    Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

    Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects by Jillian P. Casey, Kieran Brennan, Noémie Scheidel, Paul McGettigan, Paul TM Lavin, Stephen P. Carter, Sean Ennis, Huw Dorkins, Neeti Ghali, Oliver E. Blacque, Margaret M. Mc Gee, Helen Murphy, Sally Ann Lynch

    Published 2016
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  2. 2
    The Ehlers–Danlos syndromes, rare types

    The Ehlers–Danlos syndromes, rare types by Angela F. Brady, Serwet Demirdas, Sylvie Fournel‐Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer‐Seebacher, Tomoki Kosho, Roberto Mendoza‐Londono, Michael Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol C. Voermans, Johannes Zschocke, Fransiska Malfait

    Published 2017
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  3. 3
    Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

    Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome by Ruwan Weerakkody, Jana Vandrovcová, Christina Kanonidou, Michael Mueller, Piyush Gampawar, Yousef Ibrahim, Penny J. Norsworthy, Jennifer Biggs, Abdulshakur Abdullah, David Ross, Holly A. Black, David Ferguson, Nicholas Cheshire, Hanadi Kazkaz, Rodney Grahame, Neeti Ghali, Anthony Vandersteen, F M Pope, Timothy J. Aitman

    Published 2016
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  4. 4
    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders by Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder‐Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh Mordekar, Miranda Splitt, Peter D. Turnpenny, D.Z. Demetriou, Tamara T. Koopmann, Claudia Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Holder, Jessica A. Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

    Published 2022
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  5. 5
    The 2017 international classification of the Ehlers–Danlos syndromes

    The 2017 international classification of the Ehlers–Danlos syndromes by Fransiska Malfait, Clair A. Francomano, Peter H. Byers, John W. Belmont, Britta Berglund, James H. Black, Lara Bloom, Jessica Bowen, Angela F. Brady, Nigel Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel‐Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan J. Hakim, Xavier Jeunemaı̂tre, Diana Johnson, Birgit Juul‐Kristensen, Ines Kapferer‐Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E. Lavallee, Howard P. Levy, Roberto Mendoza‐Londono, Melanie Pepin, F. Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad T. Tinkle

    Published 2017
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  6. 6
    The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

    The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP by Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L. Hood, Oana Caluseriu, Jane A. Hurst, Usha Kini, Małgorzata J.M. Nowaczyk, Alexandra Afenjar, Beate Albrecht, Judith Allanson, Paolo Balestri, Tawfeg Ben‐Omran, Francesco Brancati, Isabel Cordeiro, Bruna Santos da Cunha, Louisa A Delaney, Anne Destrèe, David Fitzpatrick, Francesca Forzano, Neeti Ghali, Greta Gillies, Katerina Harwood, Yvonne Hendriks, Delphine Héron, Alexander Hoischen, Engela Honey, Lies H. Hoefsloot, Jennifer Ibrahim, Claire M Jacob, Sarina G. Kant, Chong Ae Kim, Edwin P. Kirk, Nine V.A.M. Knoers, Didier Lacombe, Chung Lee, Ivan F. M. Lo, Luiza Silveira Lucas, Francesca Mari, Verónica Mericq, Jukka S. Moilanen, Sanne Traasdahl Møller, Stéphanie Moortgat, Daniela T. Pilz, Kate Pope, Susan Price, Alessandra Renieri, Joaquim Sá, Jeroen Schoots, Elizabeth Lemos Silveira, Marleen Simon, Anne Slavotinek, I. Karen Temple, Ineke van der Burgt, Bert B.A. de Vries, James D. Weisfeld‐Adams, Margo L. Whiteford, Dagmar Wierczorek, Jan M. Wit, Connie Fung On Yee, Chandree L. Beaulieu, Sue M. White, Dennis E. Bulman, Ernie M.H.F. Bongers, Han G. Brunner, Murray Feingold, Kym M. Boycott

    Published 2013
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  7. 7
    Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

    Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia by Aline Verstraeten, Melanie Perik, Anna Baranowska, Josephina Meester, Lotte Van Den Heuvel, Jarl Bastianen, Marlies Kempers, Ingrid P.C. Krapels, Angela H.E.M. Maas, Andrea L. Rideout, Anthony Vandersteen, Glenda Sobey, Diana Johnson, Erik Fransén, Neeti Ghali, Tom R. Webb, Abtehale Al-Hussaini, Peter de Leeuw, P. Delmotte, Marilucy Lopez‐Sublet, Marco Pappaccogli, Muriel Sprynger, Laurent Toubiana, Lut Van Laer, Fleur S. van Dijk, Miikka Vikkula, Nilesh J. Samani, Alexandre Persu, David Adlam, Bart Loeys, Christophe Beauloye, Patrick Chenu, Frank Hammer, Pierre Goffette, Parla Astarci, André Peeters, Robert Verhelst, Patricia Van der Niepen, Frank Van Tussenbroek, Tine De Backer, Sofie Gevaert, Dimitri Hemelsoet, Luc Defreyne, Hilde Heuten, Laetitia Yperzeele, Thijs van der Zijden, Jean‐Philippe Lengelé, Jean-Marie Krzesinski, Peter Verhamme, Thomas Vanassche, Pasquale Scoppettuolo, Jean-Claude Wautrecht, Bojan Jelaković, Živka Dika, Rosa María Bruno, Stefano Taddei, Caterina Romanini, Ilaria Petrucci, Franco Rabbia, Silvia Di Monaco, Gian Paolo Rossi, Silvia Lerco, Pietro Minuz, Giancarlo Mansueto, Sergio De Marchi, Denise Marcon, Bram Kroon, Wilko Spiering, Bert‐Jan H. van den Born, Esteban Poch, Enrique Montagud‐Marrahí, Alícia Molina‐Andújar, Elena Guillén, Marta Burrel, Gregor Wuerzner, Lucia Mazzolai, Giacomo Buso

    Published 2020
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  8. 8
    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study

    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study by Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan H. de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis E. Duncan, Jacqueline Eason, Sian Ellard, Ian O. Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali

    Published 2016
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