Resultados da busca - May Tassabehji

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  1. 1
    Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

    Williams-Beuren syndrome: a challenge for genotype-phenotype correlations por May Tassabehji

    Publicado em 2003
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  2. 2
    Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era

    Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era por Nikita Abramovs, Andy Brass, May Tassabehji

    Publicado em 2020
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  3. 3
    Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

    Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update por Ana Beleza‐Meireles, Jill Clayton‐Smith, Jorge Saraiva, May Tassabehji

    Publicado em 2014
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  4. 4
    Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

    Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome por May Tassabehji, Zhi Fang, Emma Hilton, Julie McGaughran, Zhongming Zhao, Charles E. de Bock, Emma Howard, Michael Malass, Dian Donnai, Ashish D. Diwan, Forbes D.C. Manson, Dédée Murrell, Raymond A. Clarke

    Publicado em 2008
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  5. 5
    GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation

    GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation por Tomasz M. Witkos, Wing Lee Chan, Merja Joensuu, Manuel Rhiel, Edward Pallister, Jane Thomas‐Oates, A. Paul Mould, Mironov Aa, Christophe Biot, Yann Guérardel, Willy Morelle, Dániel Ungár, Felix Wieland, Eija Jokitalo, May Tassabehji, Uwe Kornak, Martin Lowe

    Publicado em 2019
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  6. 6
    Discriminating Power of Localized Three-Dimensional Facial Morphology

    Discriminating Power of Localized Three-Dimensional Facial Morphology por Peter Hammond, Tim J. Hutton, Judith Allanson, Bernard Buxton, Linda Campbell, Jill Clayton‐Smith, Dian Donnai, Annette Karmiloff‐Smith, Kay Metcalfe, Kieran C. Murphy, Michael A. Patton, Barbara R. Pober, Katrina Prescott, Peter Scambler, Adam Shaw, Ann C. M. Smith, Angela Stevens, I. Karen Temple, Raoul C. M. Hennekam, May Tassabehji

    Publicado em 2005
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  7. 7
    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome por Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly, Sanjeev S. Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate Chandler, Bronwyn Kerr, May Tassabehji, Sally Ann Lynch, Małgorzata Krajewska‐Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

    Publicado em 2011
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  8. 8
    Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

    Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin por Hans Christian Hennies, Uwe Kornak, Haikuo Zhang, Johannes Egerer, Xin Zhang, Wenke Seifert, Jirko Kühnisch, Birgit Budde, Marc Nätebus, Francesco Brancati, William R. Wilcox, Dietmar Müller, Paige Kaplan, Anna Rajab, Giuseppe Zampino, Valentina Fodale, Bruno Dallapiccola, William G. Newman, Kay Metcalfe, Jill Clayton‐Smith, May Tassabehji, Beat Steinmann, Francis A. Barr, Peter Nürnberg, P. Wieacker, Stefan Mundlos

    Publicado em 2008
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  9. 9
    Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

    Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11 por Christian R. Marshall, Edwin J. Young, Ariel M. Pani, Mary-Louise Freckmann, Yves Lacassie, Cédric Howald, Kristi K. Fitzgerald, Maarit Peippo, Colleen A. Morris, Kate Shane-Carson, Manuela Priolo, Masafumi Morimoto, Ikuko Kondo, Esra Manguoğlu, Sibel Berker-Karaüzüm, Patrick Edery, Holly H. Hobart, Carolyn Β. Mervis, Orsetta Zuffardi, Alexandre Reymond, Paige Kaplan, May Tassabehji, Ronald G. Gregg, Stephen W. Scherer, Lucy R. Osborne

    Publicado em 2008
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  10. 10
    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes por Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koenraad Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frédérique Béna, Raoul C. M. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton‐Smith, Ingrid Simonic, Soo Mi Park, Sarju Mehta, Serena Nik‐Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, S Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John Tolmie, Edward S. Tobias, Chris J. Lilley, Lluı́s Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary‐Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris Vermeesch, John Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler

    Publicado em 2008
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  11. 11
    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients por Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans, Merel W. Boogaard, Margot M. Linssen, Linda Vijfhuizen, Michiel J.R. van der Wielen, M.J. Ellen Vollebregt, Martijn H. Breuning, Marjolein Kriek, Arie van Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton‐Smith, Bert B.A. de Vries, Raoul C. M. Hennekam, Martine J. van Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben‐Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate Chandler, Krystyńa Chrzańowska, Amanda Collins, Teresa De Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C.J. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska‐Walasek, Nancy Kramer, Saskia M. Maas, Patrı́cia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury‐Ecob, Sarah M. Nikkel, Michael Parker, Luis A. Pérez‐Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Śmigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tüysüz, Albertien M. van Eerde, Catherine Vincent‐Delorme, Louise C. Wilson, Gözde Yeşil

    Publicado em 2013
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