Suchergebnisse - Nora Shannon

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  1. 1
    An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality

    An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality von Nora Shannon

    Veröffentlicht 2001
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  2. 2
    Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

    Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B von Sandra Hanks, Kim Coleman, Sarah Reid, Alberto Plaja, Helen V. Firth, David Fitzpatrick, Alexa Kidd, K Méhes, Richard Nash, Nathanial Robin, Nora Shannon, John Tolmie, John Swansbury, Alexandre Irrthum, Jenny Douglas, Nazneen Rahman

    Veröffentlicht 2004
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  3. 3
    Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

    Mutations in CEP57 cause mosaic variegated aneuploidy syndrome von Katie Snape, Sandra Hanks, Elise Ruark, Patricio Barros‐Núñez, Anna Elliott, Anne R. Murray, Andrew Lane, Nora Shannon, Patrick Callier, David Chitayat, Jill Clayton‐Smith, David Fitzpatrick, David Gisselsson, Sébastien Jacquemont, Keiko Asakura-Hay, Mark A. Micale, John Tolmie, Peter D. Turnpenny, Michael Wright, Jenny Douglas, Nazneen Rahman

    Veröffentlicht 2011
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  4. 4
    Nicolaides–Baraitser syndrome: Delineation of the phenotype

    Nicolaides–Baraitser syndrome: Delineation of the phenotype von Sérgio B. Sousa, Omar Abdul‐Rahman, Armand Bottani, Valérie Cormier‐Daire, Alan Fryer, Gabriele Gillessen‐Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex Magee, Fanny Morice‐Picard, Elizabeth C. Rosser, Ajoy Sarkar, Nora Shannon, Irene Stolte‐Dijkstra, Alain Verloès, Emma Wakeling, Louise C. Wilson, Raoul C. M. Hennekam

    Veröffentlicht 2009
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  5. 5
    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations von Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet, Felicity Collins, Mustafa A. Salih, S. Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silva, Véronique Baudouin, Machteld M. Oud, Nora Shannon, Martine Le Merrer, Olivier Roche, Christine Piétrement, Jamal Goumid, Clarisse Baumann, Christine Bôle‐Feysot, Patrick Nitschké, Mohammed Zahrate, Philip L. Beales, Heleen H. Arts, Arnold Münnich, Josseline Kaplan, Corinne Antignac, Valérie Cormier‐Daire, Jean‐Michel Rozet

    Veröffentlicht 2012
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  6. 6
    Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

    Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene von D.M. Hagan, Alison Ross, T Strachan, Sally Ann Lynch, Víctor L. Ruiz‐Pérez, Y.M. Wang, Peter Scambler, Emily Jane Custard, William Reardon, Syahzuwan Hassan, Maximilian Muenke, P. Nixon, Charalambos Papapetrou, R M Winter, Y. Edwards, K. Morrison, Margaret Barrow, M.P. Cordier-Alex, Patrícia Correia, Patricia Galvin‐Parton, Sharon P. Gaskill, K.J. Gaskin, S. Garcia-Minaur, Rani Gereige, Richard Hayward, Tessa Homfray, C McKeown, Victoria Murday, H Plauchu, Nora Shannon, Lewis Spitz, Susan Lindsay

    Veröffentlicht 2000
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  7. 7
    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing von Karen Stals, Matthew N. Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen, Lisa Bradley, Angela F. Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E. Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury‐Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, Ellen Thomas, Peter D. Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L. Baple, Sian Ellard

    Veröffentlicht 2017
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  8. 8
    BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

    BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms von Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia, Berrak Uğur, Jeremy Wegner, Tiana M. Scott, Brett Bostwick, David R. Murdock, Hongzheng Dai, Elena Perenthaler, Anita Nikoncuk, Marjon van Slegtenhorst, Alice S. Brooks, Boris Keren, Caroline Nava, Cyril Mignot, Jessica Douglas, Lance H. Rodan, C. Nowak, Sian Ellard, Karen Stals, Sally Ann Lynch, Marie Faoucher, Gaëtan Lesca, Patrick Edery, Kendra Engleman, Dihong Zhou, Isabelle Thiffault, John Herriges, Jennifer Gass, Raymond J. Louie, Elliot Stolerman, Camerun Washington, Francesco Vetrini, Aiko Iwata‐Otsubo, Victoria M. Pratt, Erin Conboy, Kayla Treat, Nora Shannon, Jose A. Camacho, Emma Wakeling, Bo Yuan, Chun‐An Chen, Jill A. Rosenfeld, Monte Westerfield, Michael F. Wangler, Shinya Yamamoto, Cigall Kadoch, Daryl A. Scott, Hugo J. Bellen

    Veröffentlicht 2020
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