检索结果 - Stephen P. Robertson

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  1. 1
    Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

    Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome 由 Stephen P. Robertson

    出版 2006
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  2. 2
    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 由 Louise S. Bicknell, James Pitt, Salim Aftimos, Ram Ramadas, Marion A. Maw, Stephen P. Robertson

    出版 2008
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  3. 3
    Current Progress on MicroRNA-Based Gene Delivery in the Treatment of Osteoporosis and Osteoporotic Fracture

    Current Progress on MicroRNA-Based Gene Delivery in the Treatment of Osteoporosis and Osteoporotic Fracture 由 Xi Sun, Qi Guo, Wenhua Wei, Stephen P. Robertson, Ying Yuan, Luo Xiang-hang

    出版 2019
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  4. 4
    The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis

    The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis 由 Emma M. Wade, Benjamin J. Halliday, Zandra A. Jenkins, Adam C. O’Neill, Stephen P. Robertson

    出版 2020
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  5. 5
    Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts

    Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts 由 Nadine R. Caron, Meck Chongo, Māui Hudson, Laura Arbour, Wyeth W. Wasserman, Stephen P. Robertson, Solenne Correard, Phillip Wilcox

    出版 2020
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  6. 6
    The<i>KAT6B</i>-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

    The<i>KAT6B</i>-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms 由 Philippe M. Campeau, James T. Lu, Brian C. Dawson, Ivo F.A.C. Fokkema, Stephen P. Robertson, Richard A. Gibbs, Brendan Lee

    出版 2012
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  7. 7
    Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome

    Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome 由 Mary Jane Gray, Chong Ae Kim, Débora Romeo Bertola, Paula Ricci Arantes, Helen Stewart, Michael A. Simpson, Melita Irving, Stephen P. Robertson

    出版 2011
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  8. 8
    Mutations of ephrin-B1 (<i>EFNB1</i>), a marker of tissue boundary formation, cause craniofrontonasal syndrome

    Mutations of ephrin-B1 (<i>EFNB1</i>), a marker of tissue boundary formation, cause craniofrontonasal syndrome 由 Stephen R.F. Twigg, Rui Kan, Christian Babbs, Elena G. Bochukova, Stephen P. Robertson, Steven A. Wall, Gillian Morriss‐Kay, Andrew O.M. Wilkie

    出版 2004
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  9. 9
    Epidermolysis Bullosa with Congenital Pyloric Atresia: Novel Mutations in the β4 Integrin Gene (ITGB4) and Genotype/Phenotype Correlations

    Epidermolysis Bullosa with Congenital Pyloric Atresia: Novel Mutations in the β4 Integrin Gene (ITGB4) and Genotype/Phenotype Correlations 由 Aoi Nakano, Leena Pulkkinen, Dédée F. Murrell, Joyce Rico, Anne W. Lucky, Maria C. Garzón, Cathy A. Stevens, Stephen P. Robertson, Ellen G Pfendner, Jouni Uitto

    出版 2001
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  10. 10
    RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape

    RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape 由 Olivia Gay, Benoît Gilquin, Fumihiko Nakamura, Zandra A. Jenkins, Rosannah McCartney, Deborah Krakow, Alexandre Deshière, Nicole Assard, John H. Hartwig, Stephen P. Robertson, Jacques Baudier

    出版 2011
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  11. 11
    <scp>ECE</scp>2 regulates neurogenesis and neuronal migration during human cortical development

    <scp>ECE</scp>2 regulates neurogenesis and neuronal migration during human cortical development 由 Isabel Y. Buchsbaum, Pavel Kielkowski, Grazia Giorgio, Adam C. O’Neill, Rossella Di Giaimo, Christina Kyrousi, Shahryar Khattak, Stephan A. Sieber, Stephen P. Robertson, Silvia Cappello

    出版 2020
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  12. 12
    Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

    Menkes disease: importance of diagnosis with molecular analysis in the neonatal period 由 Larissa Sampaio de Athayde Costa, Stephanie Pucci Pegler, Rute Facchini Lellis, Vera Lúcia Jornada Krebs, Stephen P. Robertson, Tim Morgan, Rachel Sayuri Honjo, Débora Romeo Bertola, Chong Ae Kim

    出版 2015
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  13. 13
    Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

    Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome 由 Kieran J. Bunn, Phil Daniel, Heleen S. Rösken, Adam C. O’Neill, Sophia Cameron‐Christie, Tim Morgan, Han G. Brunner, Angeline Lai, Henricus P. M. Kunst, David Markie, Stephen P. Robertson

    出版 2015
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  14. 14
    Internalizing disorders and leukocyte telomere erosion: a prospective study of depression, generalized anxiety disorder and post-traumatic stress disorder

    Internalizing disorders and leukocyte telomere erosion: a prospective study of depression, generalized anxiety disorder and post-traumatic stress disorder 由 Idan Shalev, Terrie E. Moffitt, Antony W. Braithwaite, Andrea Danese, Nicholas I. Fleming, S Goldman-Mellor, HonaLee Harrington, Renate Houts, Salomon Israel, Richie Poulton, Stephen P. Robertson, Karen Sugden, Benjamin Williams, Avshalom Caspi

    出版 2014
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  15. 15
    Nosology and classification of genetic skeletal disorders: 2019 revision

    Nosology and classification of genetic skeletal disorders: 2019 revision 由 Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti‐Furga, Sheila Unger, Matthew L. Warman

    出版 2019
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  16. 16
    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene 由 Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel‐Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyürek, Johan T. den Dunnen, Martijn H. Breuning

    出版 2010
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  17. 17
    De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

    De novo and inherited private variants in MAP1B in periventricular nodular heterotopia 由 Erin L. Heinzen, Adam C. O’Neill, Xiaolin Zhu, Andrew S. Allen, Melanie Bahlo, Jamel Chelly, Ming Hui Chen, William B. Dobyns, Saskia Freytag, Renzo Guerrini, Richard J. Leventer, Annapurna Poduri, Stephen P. Robertson, Christopher A. Walsh, Mengqi Zhang

    出版 2018
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  18. 18
    Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

    Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome 由 Annette F. Baas, Michael T. Gabbett, Milan Rimac, Minttu Kansikas, Martine Raphaël, Rutger A. J. Nievelstein, Wayne Nicholls, Johan Offerhaus, Daniëlle Bodmer, Annekatrin Wernstedt, Birgit Krabichler, Ulrich Strasser, Minna Nyström, Johannes Zschocke, Stephen P. Robertson, Mieke M. van Haelst, Katharina Wimmer

    出版 2012
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  19. 19
    Nosology and classification of genetic skeletal disorders: 2010 revision

    Nosology and classification of genetic skeletal disorders: 2010 revision 由 Matthew L. Warman, Valérie Cormier‐Daire, Christine M Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen P. Robertson, Ravi Savarirayan, David Sillence, J Spranger, Sheila Unger, Bernhard Zabel, Andrea Superti‐Furga

    出版 2011
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  20. 20
    The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

    The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda 由 Ági K. Gedeon, George E. Tiller, M. Le Merrer, S. Heuertz, Lisbeth Tranebjærg, David Chitayat, Stephen P. Robertson, Ian Glass, Ravi Savarirayan, William G. Cole, David L. Rimoin, Boris G. Kousseff, Hirofumi Ohashi, Bernhard Zabel, Arnold Münnich, Jozef Gécz, John C. Mulley

    出版 2001
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