Resultados de procura - Salim Aftimos

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  1. 1
    A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

    A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome por Louise S. Bicknell, James Pitt, Salim Aftimos, Ram Ramadas, Marion A. Maw, Stephen P. Robertson

    Publicado 2008
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  2. 2
    Knobloch syndrome: Novel mutations in<i>COL18A1</i>, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

    Knobloch syndrome: Novel mutations in<i>COL18A1</i>, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin por Olivier Menzel, Reidunn C.J. Bekkeheien, Alexandre Reymond, Naomi Fukai, Eileen Boye, György Kosztolányi, Salim Aftimos, Samuel Deutsch, Hamish S. Scott, Bjørn R. Olsen, Stylianos E. Antonarakis, Michel Guipponi

    Publicado 2003
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  3. 3
    O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

    O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling por Nithya Selvan, Stephan George, Fatema Serajee, Marie Shaw, Lynne Hobson, Vera M. Kalscheuer, Nripesh Prasad, Shawn Levy, Juliet Taylor, Salim Aftimos, Charles E. Schwartz, Ahm M. Huq, Jozef Gécz, Lance Wells

    Publicado 2018
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  4. 4
    Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

    Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis por Pleasantine Mill, Paul J. Lockhart, Elizabeth Fitzpatrick, Hayley S. Mountford, Emma A. Hall, Martin A.M. Reijns, Margaret Keighren, Melanie Bahlo, Catherine J. Bromhead, Peter S. Budd, Salim Aftimos, Martin B. Delatycki, Ravi Savarirayan, Ian J. Jackson, David J. Amor

    Publicado 2011
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  5. 5
    TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

    TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families por Elena Andreucci, Salim Aftimos, M.B. Alcausin, Eric Haan, Warwick Hunter, Pekka Kannus, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria Grazia Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R. Lamandé, Ravi Savarirayan

    Publicado 2011
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  6. 6
    Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i>

    Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i> por Meredith Wilson, David Mowat, Florence Dastot‐Le Moal, Valère Cacheux, Helena Kääriäinen, Danny Cass, Dian Donnai, Jill Clayton‐Smith, Sharron Townshend, Cynthia J. Curry, Michael Gattas, Stephen R. Braddock, Bronwyn Kerr, Salim Aftimos, Harry Zehnwirth, Catherine Barrey, Michel Goossens

    Publicado 2003
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  7. 7
    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome por Deborah A. McDermott, Michael Bressan, Jié He, Joseph S. Lee, Salim Aftimos, Martina Brueckner, Fiona J. Gilbert, Gail E. Graham, Mark C. Hannibal, Jeffrey W. Innis, Mary Ella Pierpont, Annick Raas‐Rothschild, Alan Shanske, Wendy E. Smith, Robert H. Spencer, Martin G. St. John-Sutton, Lionel Van Maldergem, Darrel Waggoner, Matthew P. Weber, Craig T. Basson

    Publicado 2005
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  8. 8
    Molecular consequences of dominant Bethlem myopathy collagen VI mutations

    Molecular consequences of dominant Bethlem myopathy collagen VI mutations por Naomi L. Baker, Matthias Mörgelin, Rishika A. Pace, Rachel A. Peat, Naomi E. Adams, R. J. McKinlay Gardner, Lewis P. Rowland, Geoffrey Miller, Peter De Jonghe, Berten Ceulemans, Mark C. Hannibal, Matthew Edwards, Elizabeth M. Thompson, Richard D. Jacobson, Rosaline C. M. Quinlivan, Salim Aftimos, Andrew J. Kornberg, Kathryn N. North, John F. Bateman, Shireen R. Lamandé

    Publicado 2007
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  9. 9
    Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

    Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis por Deborah Krakow, Stephen P. Robertson, Lily King, Timothy Morgan, Eiman Sebald, Corine Bertolotto, Sebastian Wachsmann‐Hogiu, Dora Acuña, Sandor S. Shapiro, Toshiro Takafuta, Salim Aftimos, Chong Ae Kim, Helen V. Firth, Carlos Eduardo Steiner, Valérie Cormier‐Daire, Andrea Superti‐Furga, Luisa Bonafé, John M. Graham, Arthur Grix, Carlos A. Bacino, Judith Allanson, Martin G. Bialer, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn

    Publicado 2004
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  10. 10
    Mutations in the pre-replication complex cause Meier-Gorlin syndrome

    Mutations in the pre-replication complex cause Meier-Gorlin syndrome por Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, Stephen Brown, Jeroen Schoots, Margaret E Harley, Salim Aftimos, Jumana Y. Al‐Aama, Michael B. Bober, Paul A. Brown, Hans van Bokhoven, John Dean, Alaa Edrees, Murray Feingold, Alan Fryer, Lies H. Hoefsloot, Nikolaus Kau, Nine Knoers, J. M. MacKenzie, John M. Opitz, Pierre Sarda, Alison Ross, I. Karen Temple, Annick Toutain, Carol A. Wise, Michael Wright, Andrew P. Jackson

    Publicado 2011
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  11. 11
    Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

    Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen por U. Schwarze, Tim Cundy, Shawna M. Pyott, H. E. Christiansen, Madhuri Hegde, Ruud A. Bank, Gerard Pals, Arunkanth Ankala, Karen N. Conneely, Laurie Seaver, Suzanne M. Yandow, Ellen M. Raney, Dusica Babovic‐Vuksanovic, Joan M. Stoler, Ziva Ben‐Neriah, Reeval Segel, Sari Lieberman, Liesbeth Siderius, Aida I. Al‐Aqeel, Mark C. Hannibal, Lucas Hudgins, Elizabeth McPherson, Michele Clemens, Michael D. Sussman, Robert D. Steiner, John D. Mahan, Rosemarie Smith, Kwame Anyane‐Yeboa, Julia Wynn, Karen Chong, Tami Uster, Salim Aftimos, V. Reid Sutton, Elise Davis, In S. Kim, Mary Ann Weis, David R. Eyre, Peter H. Byers

    Publicado 2012
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  12. 12
    The genetic basis of DOORS syndrome: an exome-sequencing study

    The genetic basis of DOORS syndrome: an exome-sequencing study por Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, Lindsay C. Burrage, Choel Kim, Mutsuki Hori, Berkley R. Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende, Marzena Wiśniewska, Hülya Kayserili, Patrick Rump, Sheela Nampoothiri, Salim Aftimos, Antje Mey, Lal D V Nair, Michael L. Begleiter, Isabelle De Bie, Girish Meenakshi, Mitzi L. Murray, Gabriela M. Repetto, Mahin Golabi, Edward Blair, Alison Male, Fabienne Giuliano, Ariana Kariminejad, William G. Newman, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Bronwyn Kerr, Siddharth Banka, Jacques C. Giltay, Dagmar Wieczorek, Anna Tostevin, Joanna Wiszniewska, Sau Wai Cheung, Raoul C. M. Hennekam, Richard A. Gibbs, Brendan Lee, Sanjay M. Sisodiya

    Publicado 2013
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  13. 13
    Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

    Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis por Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, Jill Clayton‐Smith, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, Jeroen Schoots, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    Publicado 2012
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  14. 14
    Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

    Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder por Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, George F. Borm, Jill Clayton‐Smith, Cheri Deal, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, A. Erik Sluiter, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    Publicado 2012
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  15. 15
    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations por Jennifer J. Johnston, Julie C. Sapp, Joyce Turner, David J. Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael Field, Ikuma Fujiwara, Michael T. Gabbett, Moran Gal, John M. Graham, Peter Hedera, Raoul C. M. Hennekam, Joseph H. Hersh, Robert J. Hopkin, Hülya Kayserili, Alexa Kidd, Virginia Kimonis, Angela E. Lin, Sally Ann Lynch, Melissa K. Maisenbacher, Sahar Mansour, Julie McGaughran, Lakshmi Mehta, Helen Murphy, Margarita Raygada, Nathaniel H. Robin, Alan F. Rope, Kenneth N. Rosenbaum, G. Bradley Schaefer, Amy Shealy, Wendy E. Smith, Maria Soller, Annmarie Sommer, Heather J. Stalker, Bernhard Steiner, Mark J. Stephan, David Tilstra, Susan Tomkins, Pamela Trapane, Anne Chun-Hui Tsai, Margot I. Van Allen, Pradeep Vasudevan, Bernhard Zabel, Janice Zunich, Graeme Black, Leslie G. Biesecker

    Publicado 2010
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