Suchergebnisse - Muriel Holder‐Espinasse

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  1. 1
    Tracheal regeneration: Evidence of bone marrow mesenchymal stem cell involvement

    Tracheal regeneration: Evidence of bone marrow mesenchymal stem cell involvement von Agathe Seguin, Sonia Baccari, Muriel Holder‐Espinasse, Patrick Bruneval, Alain Carpentier, Doris A. Taylor, Emmanuel Martinod

    Veröffentlicht 2012
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  2. 2
    Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

    Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity von Jamal Ghoumid, Florence Petit, Muriel Holder‐Espinasse, Anne‐Sophie Jourdain, José Guerra, Anne Dieux‐Coëslier, Martin Figeac, Nicole Porchet, Sylvie Manouvrier‐Hanu, Fabienne Escande

    Veröffentlicht 2015
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  3. 3
    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

    De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome von Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, Wesley J. Woollard, Frances Elmslie, Muriel Holder‐Espinasse, Melita Irving, Anand Saggar, Sarah Smithson, Richard C. Trembath, Charu Deshpande, Michael A. Simpson

    Veröffentlicht 2012
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  4. 4
    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce... von Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati‐Bonneau, Agnès Guichet, M. Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, Jean Pierre Kerckaert, Véronique David, Sylvie Manouvrier‐Hanu, Pascale Saugier‐Veber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, Dominique Bonneau

    Veröffentlicht 2009
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  5. 5
    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome

    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome von Pascale Saugier‐Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin‐Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder‐Espinasse, J. Roume, Valérie Malan, Marie‐France Portnoï, Nicolas Jeanne, Clarisse Baumann, Delphine Héron, Albert David, Marion Gérard, Dominique Bonneau, Didier Lacombe, Valérie Cormier‐Daire, Thierry Billette de Villemeur, Thierry Frébourg, Lydie Bürglen

    Veröffentlicht 2007
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  6. 6
    Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

    Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears von Christopher T. Gordon, Florence Petit, Peter M. Kroisel, Linda P. Jakobsen, Roseli Maria Zechi‐Ceide, Myriam Oufadem, Christine Bôle‐Feysot, Solenn Pruvost, Cécile Masson, Frédéric Torès, Thierry Hieu, Patrick Nitschké, Pernille Lindholm, P. Pellerin, Maria Leine Guion‐Almeida, Nancy Mizue Kokitsu‐Nakata, Siulan Vendramini‐Pittoli, Arnold Münnich, Stanislas Lyonnet, Muriel Holder‐Espinasse, Jeanne Amiel

    Veröffentlicht 2013
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  7. 7
    Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

    Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability von Marjolein H. Willemsen, Astrid Vallès, Laurens A. M. H. Kirkels, Mathilde Mastebroek, Nikkie Olde Loohuis, Aron Kos, W.M. Wissink-Lindhout, Arjan P.M. de Brouwer, Willy M. Nillesen, Rolph Pfundt, Muriel Holder‐Espinasse, Louis Vallée, Joris Andrieux, Marjolein C. Coppens‐Hofman, Hanneke Rensen, Ben C.J. Hamel, Hans van Bokhoven, Armaz Aschrafi, Tjitske Kleefstra

    Veröffentlicht 2011
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  8. 8
    ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service

    ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service von Hannah McInnes‐Dean, Rhiannon Mellis, Morgan Daniel, Holly Walton, Emma L. Baple, Marta Bértoli, Jane Fisher, Katarzyna Gajewska‐Knapik, Muriel Holder‐Espinasse, Caroline Lafarge, Kerry Leeson‐Beevers, Alec McEwan, Pranav Pandya, Michael Parker, Sophie Peet, Lauren Roberts, Srividhya Sankaran, Audrey Smith, Dagmar Tapon, Wing Han Wu, Sarah L. Wynn, Lyn S. Chitty, Melissa Hill, Michelle Peter

    Veröffentlicht 2024
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  9. 9
    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia von Nicolas Chassaing, Alexandre Causse, Adeline Vigouroux, Andrée Delahaye‐Duriez, Jean‐Luc Alessandri, Odile Boespflug‐Tanguy, Odile Boute‐Bénéjean, Hélène Dollfus, Bénédicte Duban‐Bedu, Brigitte Gilbert‐Dussardier, Fabienne Giuliano, M. Gonzalés, Muriel Holder‐Espinasse, Bertrand Isidor, M. Jacquemont, Didier Lacombe, Dominique Martin–Coignard, M. Mathieu‐Dramard, Sylvie Odent, Olivier Picone, L Pinson, Chloé Quēlin, Sabine Sigaudy, Annick Toutain, Christel Thauvin-Robinet, Josseline Kaplan, Patrick Calvas

    Veröffentlicht 2013
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  10. 10
    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders von 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

    Veröffentlicht 2022
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  11. 11
    Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

    Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A von Eyal Reinstein, Sophia Frentz, Tim Morgan, Sixto García‐Miñaúr, Richard J. Leventer, George McGillivray, Mitchel Pariani, Anthony van der Steen, Michael Pope, Muriel Holder‐Espinasse, Richard H. Scott, Elizabeth M. Thompson, Terry Robertson, Brian Coppin, Robert J. Siegel, Montserrat Bret Zurita, José Ignacio Rodrı́guez, Carmen del Rocío Monedero Morales, Yuri Blanc Rodrigues, Joaquín Arcas, Anand Saggar, Margaret A. Horton, Elaine H. Zackai, John M. Graham, David L. Rimoin, Stephen P. Robertson

    Veröffentlicht 2012
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  12. 12
    A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

    A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome von Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Lihadh Al‐Gazali, Natalie Canham, Víctor Faúndes, Frances Flinter, Jozef Hertecant, Muriel Holder‐Espinasse, Brian R. Jackson, Sally Ann Lynch, Fatima Nadat, Vagheesh M. Narasimhan, Michelle Peckham, Robert Sellers, Marco Seri, Francesca Montanari, Laura Southgate, Gabriella Maria Squeo, Richard C. Trembath, David A. van Heel, Santina Venuto, Daniel Weisberg, Karen Stals, Sian Ellard, Anne Barton, Susan J. Kimber, Eamonn Sheridan, Giuseppe Merla, Adam Stevens, Colin A. Johnson, Siddharth Banka

    Veröffentlicht 2020
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  13. 13
    Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

    Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients von Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean‐Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute‐Bénéjean, Roseline Caumes, Christine Decaestecker, Dominique Gaillard, Alice Goldenberg, Marie Gonzalès, Muriel Holder‐Espinasse, Marie‐Line Jacquemont, Didier Lacombe, Sylvie Manouvrier‐Hanu, Sandrine Marlin, Michèle Mathieu‐Dramard, G Morin, Laurent Pasquier, Florence Petit, Marlène Rio, Robert Śmigiel, Christel Thauvin‐Robinet, Alexandre Vasiljevic, Alain Verloès, Valérie Malan, Arnold Münnich, Loïc de Pontual, Michel Vekemans, Stanislas Lyonnet, Tania Attié‐Bitach, Jeanne Amiel

    Veröffentlicht 2014
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  14. 14
    Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

    Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort von Josephina Meester, Maja Sukalo, Kim Schroder, Denny Schanze, Gareth Baynam, Guntram Borck, Nuria C. Bramswig, Duygu Duman, Brigitte Gilbert‐Dussardier, Muriel Holder‐Espinasse, Peter Itin, Diana Johnson, Shelagh Joss, Hannele Koillinen, F. Ellis McKenzie, Jenny Morton, Heike Nelle, William Reardon, Claudia Roll, Mustafa A. Salih, Ravi Savarirayan, Ingrid Scurr, Miranda Splitt, Elizabeth Thompson, Hannah Titheradge, Colm P. Travers, Lionel Van Maldergem, Margo Whiteford, Dagmar Wieczorek, Geert Vandeweyer, Richard C. Trembath, Lut Van Laer, Bart Loeys, Martin Zenker, Laura Southgate, Wim Wuyts

    Veröffentlicht 2018
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  15. 15
    Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

    Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome von Christopher T. Gordon, Alice Vuillot, Sandrine Marlin, Erica H. Gerkes, Alex Henderson, Adila Al‐Kindy, Muriel Holder‐Espinasse, Sarah Park, Asma Omarjee, Mateo Sanchis-Borja, Eya Ben Bdira, Myriam Oufadem, Birgit Sikkema‐Raddatz, A. Stewart, Rodger Palmer, Ruth McGowan, Florence Petit, Bruno Delobel, Michael R. Speicher, Paul Aurora, David Kilner, P. Pellerin, Marie Simon, Jean‐Paul Bonnefont, Edward S. Tobias, Sixto García‐Miñaúr, Maria Bitner‐Glindzicz, Pernille Lindholm, Brigitte A. Meijer, Véronique Abadie, Françoise Denoyelle, Marie-Paule Vazquez, C Rotky-Fast, V. Couloigner, S. Pierrot, Y Manac'h, Sylvain Breton, Yvonne Hendriks, Arnold Münnich, Linda P. Jakobsen, Peter M. Kroisel, Angela E. Lin, Leonard B. Kaban, Lina Basel‐Vanagaite, Louise C. Wilson, Michael L. Cunningham, Stanislas Lyonnet, Jeanne Amiel

    Veröffentlicht 2013
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  16. 16
    NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

    NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly von Ina Schanze, Jens Bunt, Jonathan W. C. Lim, Denny Schanze, Ryan J. Dean, Mariëlle Alders, Patricia Blanchet, Tania Attié‐Bitach, Siren Berland, Steven Boogert, Sangamitra Boppudi, Caitlin J. Bridges, Megan T. Cho, William B. Dobyns, Dian Donnai, Jessica Douglas, Dawn Earl, Timothy J. Edwards, Laurence Faivre, Brieana Fregeau, David Geneviève, Marion Gérard, Vincent Gâtinois, Muriel Holder‐Espinasse, Samuel Huth, Kosuke Izumi, Bronwyn Kerr, Elodie Lacaze, Phillis Lakeman, Sonal Mahida, Ghayda Mirzaa, Siân Morgan, C. Nowak, Hilde Peeters, Florence Petit, Daniela T. Pilz, Jacques Puechberty, Eyal Reinstein, Jean‐Baptiste Rivière, Avni Santani, Anouck Schneider, Elliott H. Sherr, Constance Smith‐Hicks, Ilse Wieland, Elaine H. Zackai, Xiaonan Zhao, Richard M. Gronostajski, Martin Zenker, Linda J. Richards

    Veröffentlicht 2018
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  17. 17
    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype von Paulien A. Terhal, Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl, Marleen Simon, Sarah Smithson, Carlo Marcelis, Bronwyn Kerr, Jill Clayton‐Smith, Esther Kinning, Sahar Mansour, Frances Elmslie, Linda Goodwin, Annemarie H. van der Hout, Hermine E. Veenstra‐Knol, Johanna C. Herkert, Allan M. Lund, Raoul C. M. Hennekam, André Mégarbané, Melissa Lees, Louise C. Wilson, Alison Male, Jane A. Hurst, Yasemin Alanay, Göran Annerén, Regina C. Betz, Ernie M.H.F. Bongers, Valérie Cormier‐Daire, Anne Dieux, Albert David, Mariet W. Elting, Jenneke van den Ende, Andrew Green, Johanna M. van Hagen, Niels Thomas Hertel, Muriel Holder‐Espinasse, Nicolette S. den Hollander, Tessa Homfray, Hanne Hove, Susan Price, Annick Raas‐Rothschild, Marianne Rohrbach, Barbara Schroeter, Mohnish Suri, Elizabeth M. Thompson, Edward S. Tobias, Annick Toutain, Maaike Vreeburg, Emma Wakeling, Nine Knoers, Paul Coucke, Geert Mortier

    Veröffentlicht 2015
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  18. 18
    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... von Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett H. Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al‐Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben‐Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne Katrin Lampe, Ajith Kumar, Melissa Lees, Muriel Holder‐Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema R. Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

    Veröffentlicht 2019
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  19. 19
    Mutation Update of the<i>CLCN5</i>Gene Responsible for Dent Disease 1

    Mutation Update of the<i>CLCN5</i>Gene Responsible for Dent Disease 1 von Lamisse Mansour‐Hendili, Anne Blanchard, Nelly Le Pottier, Isabelle Roncelin, Stéphane Lourdel, Cyrielle Tréard, Wendy González, Ariela Vergara‐Jaque, Gilles Morin, Estelle Colin, Muriel Holder‐Espinasse, Justine Bacchetta, Véronique Baudouin, Stéphane L. Benoit, E. Bérard, Guylhène Bourdat-Michel, Karim Bouchireb, Stéphane Burtey, Mathilde Cailliez, Gérard Cardon, C. Cartery, Gérard Champion, Dominique Chauveau, Pierre Cochat, Karin Dahan, Renaud de la Faille, François-Guillaume Debray, Laurenne Dehoux, Georges Deschênes, Éstelle Desport, Olivier Devuyst, Stella M. Dieguez, Francesco Emma, Michel Fischbach, Denis Fouque, Jacques Fourcade, Arnaud François, Brigitte Gilbert‐Dussardier, Thierry Hannedouche, Pascal Houillier, Hassan Izzedine, Marco Janner, Alexandre Karras, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Valériane Leroy, Chantal Loirat, Marie-Alice Macher, Dominique Martin–Coignard, Denis Morin, Patrick Niaudet, Hubert Nivet, François Nobili, Robert Novo, Laurence Faivre, Claire Rigothier, Gwénaëlle Roussey-Kesler, Rémi Salomon, Andreas Schleich, A.L. Sellier-Leclerc, Kenza Soulami, A. Tiple, Tim Ulinski, Philippe Vanhille, Nicole Van Regemorter, Xavier Jeunemaı̂tre, Rosa Vargas‐Poussou

    Veröffentlicht 2015
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  20. 20
    Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

    Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study von Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, Sarah Wynn, Tamsin Ford, Kate Baker, Samuel J. R. A. Chawner, Jérémy Hall, Marianne B. M. van den Bree, Michael J. Owen, Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, Marie Erwood, David Lafont, Husne Timur, Zheng Ye, Susan Walker, Frida Printzlau, Manoj Juj, Sarah Davies, Hayley Denyer, Alice Watkins, Eleanor Kerry, Nadia Coscini, Nasrtullah Fatih, Anna Lucock, Spiros Denaxas, William Mandy, Neil Walker, Sarah B. Wallwork, Eleanor Dewhurst, Andrew Cuthbert, Aimée Challenger, Sophie C. Andrews, Peter Holmans, Samantha Bowen, Karen Bradley, Philippa Birch, Molly Tong, Nicola S. Lewis, Sinead Ray, Matthew Sopp, Hayley Moss, Sarah Wynn, Beverley A. Searle, Lisa Robertson, Jonathan Berg, Anne Lampe, Shelagh Joss, Paul Brennan, Alison Kraus, Nayana Lahiri, Astrid Weber, Myfanwy Rawson, Diana Johnson, Pradeep Vasudevan, Rachel Harrison, Denise Williams, Eamonn R. Maher, Usha Kini, Fleur van Dijk, Virginia Clowes, Jana Gurasashvilli, Sahar Mansour, Muriel Holder-Espinasse, Amy Watford, Julia Rankin, Diana Baralle, Annie Procter, Tamsin Ford, Kate Baker, Samuel J. R. A. Chawner, Jérémy Hall, Marianne B. M. van den Bree, Michael J. Owen, David Skuse, F. Lucy Raymond, David Skuse, F. Lucy Raymond

    Veröffentlicht 2022
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