檢索結果 - Emma Wakeling

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  1. 1
    Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome

    Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome 由 David Monk, Emma Wakeling, Virginia K. Proud, Megan P. Hitchins, Sayeda Abu‐Amero, Philip Stanier, Michael A. Preece, Gudrun E. Moore

    出版 2000
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  2. 2
    Lung Disease Associated with the IVS8 5T Allele of the CFTR Gene

    Lung Disease Associated with the IVS8 5T Allele of the CFTR Gene 由 Peadar G. Noone, C A Pue, Zhaoqing Zhou, KENNETH J. FRIEDMAN, Emma Wakeling, Muttiah Ganeshananthan, Richard H. Simon, Lawrence M. Silverman, Michael R. Knowles

    出版 2000
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  3. 3
    Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

    Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome 由 Saskia M. Maas, Maria Lombardi, A. J. van Essen, Emma Wakeling, B. Castle, I. Karen Temple, Vibhore Kumar, Karin Writzl, Raoul C. M. Hennekam

    出版 2009
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  4. 4
    Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

    Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders 由 Rebecca Poole, Louise E Docherty, Abeer Al Sayegh, Almuth Caliebe, Claire Turner, Emma L. Baple, Emma Wakeling, Lucy Harrison, Anna Lehmann, I. Karen Temple, Deborah Mackay

    出版 2013
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  5. 5
    Ionic control of beta cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade.

    Ionic control of beta cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade. 由 Keith Lindley, Mark J. Dunne, Cheikhou Kane, Ruth M. Shepherd, Paul E. Squires, R F James, Paul Johnson, S. Eckhardt, Emma Wakeling, MT Dattani, Peter J. Milla, A Aynsley‐Green

    出版 1996
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  6. 6
    Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment

    Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment 由 Oluwakemi Lokulo‐Sodipe, Éloïse Giabicani, Ana Pinheiro Machado Canton, Nawfel Ferrand, Jenny Child, Emma Wakeling, Gerhard Binder, Irène Netchine, Deborah Mackay, Hazel Inskip, Christopher D. Byrne, I. Karen Temple, Justin H. Davies

    出版 2022
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  7. 7
    BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

    BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome 由 Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R. Grimes, James Rhodes, Alex von Kriegsheim, Ana Blatnik, Fiona J. Stewart, Emma Wakeling, Nicola Carroll, Alison Ross, Soo‐Mi Park, Wendy A. Bickmore, Madapura M. Pradeepa, David Fitzpatrick

    出版 2018
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  8. 8
    Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development

    Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development 由 Gabriella Shih Ping Hsia, Camila Manso Musso, Lucas Alvizi, Luciano Abreu Brito, Gerson Shigeru Kobayashi, Rita C.M. Pavanello, Mayana Zatz, Alice Gardham, Emma Wakeling, Roseli Maria Zechi‐Ceide, Débora Romeo Bertola, Maria Rita Passos‐Bueno

    出版 2018
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  9. 9
    <i>DOCK6</i>Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

    <i>DOCK6</i>Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies 由 Maja Sukalo, Felix Tilsen, Hülya Kayserili, Dietmar Müller, Beyhan Tüysüz, Deborah Ruddy, Emma Wakeling, Karen Helene Ørstavik, Katie Snape, Richard C. Trembath, Maryse De Smedt, Nathalie Van der Aa, Martin Skalej, Stefan Mundlos, Wim Wuyts, Laura Southgate, Martin Zenker

    出版 2015
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  10. 10
    Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

    Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci 由 Claire Turner, Deborah Mackay, Jonathan L A Callaway, Louise E Docherty, Rebecca Poole, H. Bullman, Margaret Lever, Bruce Castle, Emma Kivuva, Peter D. Turnpenny, Sarju Mehta, Sahar Mansour, Emma Wakeling, Verghese Mathew, J. Madden, Justin H. Davies, I. Karen Temple

    出版 2010
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  11. 11
    Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

    Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review 由 Sarah U. Morton, John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H. Wojcik, Courtney E. French, Anna Szuto, James J. Dowling, Ronald D. Cohn, F. Lucy Raymond, Basil T. Darras, David A. Williams, Sebastian Lunke, Zornitza Stark, David H. Rowitch, Pankaj B. Agrawal

    出版 2022
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  12. 12
    Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

    Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling 由 Dan Hanson, Philip Murray, Tessa Coulson, Amit Sud, Ajibola Omokanye, Emily Stratta, Faezeh Sakhinia, C Bonshek, Laura C. Wilson, Emma Wakeling, Samia A. Temtamy, Mona Aglan, Elisabeth Rosser, Sahar Mansour, Atilano Carcavilla, Sheela Nampoothiri, Waqas Khan, Indraneel Banerjee, Kate Chandler, Graeme Black, Peter Clayton

    出版 2012
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  13. 13
    Epigenotype-phenotype correlations in Silver-Russell syndrome

    Epigenotype-phenotype correlations in Silver-Russell syndrome 由 Emma Wakeling, S. A. Amero, Mariëlle Alders, Jet Bliek, Elizabeth Forsythe, Sudhesh Kumar, Derek Lim, Fiona MacDonald, Deborah Mackay, Eamonn R. Maher, Gudrun E. Moore, RL Poole, S. M. Price, Trine Tangeraas, C. L. S. Turner, Mieke M. van Haelst, Catherine Willoughby, I. Karen Temple, J. M. Cobben

    出版 2010
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  14. 14
    Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

    Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling 由 Yun Li, Kathrin Laue, Samia A. Temtamy, Mona Aglan, Leman Damla Kotan, Gökhan Yigit, Husniye Canan, Barbara Pawlik, Gudrun Nürnberg, Emma Wakeling, Oliver Quarrell, Ingelore Baessmann, Matthew B. Lanktree, M. Yılmaz, Robert A. Hegele, Khalda Amr, Klaus W. May, Peter Nürnberg, A. Kemal Topaloğlu, Matthias Hammerschmidt, Bernd Wollnik

    出版 2010
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  15. 15
    Nicolaides–Baraitser syndrome: Delineation of the phenotype

    Nicolaides–Baraitser syndrome: Delineation of the phenotype 由 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

    出版 2009
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  16. 16
    Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

    Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families 由 Bert Callewaert, Andy Willaert, Wilhelmina S. Kerstjens‐Frederikse, Julie De Backer, Koenraad Devriendt, Bruno Albrecht, María A. Ramos-Arroyo, M. Doco‐Fenzy, R Hennekam, Reed E. Pyeritz, O.N. Krogmann, Gabrielle Gillessen-Kaesbach, Emma Wakeling, Serena Nik‐Zainal, Christine Francannet, P. Mauran, C. Booth, Margaret Barrow, R. Dekens, Bart Loeys, Paul Coucke, Anne M. De Paepe

    出版 2007
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  17. 17
    Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

    Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus 由 Joséphine Mayer, Emma M. Jenkinson, Paul R. Kasher, Stavros Stivaros, Andrea Berger, Duccio Maria Cordelli, Patrick Ferreira, Rosalind J Jefferson, G Kutschke, Staffan Lundberg, Katrin Õunap, Prab Prabhakar, Calvin Soh, Helen Stewart, Jon Stone, Marjo S. van der Knaap, Hilde Van Esch, Christine Van Mol, Emma Wakeling, Andrea Whitney, Gillian Rice, Yanick J. Crow, John H. Livingston

    出版 2014
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  18. 18
    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability

    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability 由 Mark Hamilton, Richard Caswell, Natalie Canham, Trevor Cole, Helen V. Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury‐Ecob, Soo‐Mi Park, Leema Robert, Cecilie F. Rustad, Emma Wakeling, Andrew O.M. Wilkie, The Deciphering Developmental Disor Study, Stephen R.F. Twigg, Mohnish Suri

    出版 2017
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  19. 19
    Mosaic structural variation in children with developmental disorders

    Mosaic structural variation in children with developmental disorders 由 Daniel A. King, Wendy D. Jones, Yanick J. Crow, Anna F. Dominiczak, N Foster, Tom R. Gaunt, Jade Harris, Stephen Hellens, Tessa Homfray, Josie Innes, Elizabeth A. Jones, Shelagh Joss, Abhijit Kulkarni, Sahar Mansour, Andrew D. Morris, Michael Parker, David J. Porteous, Hashem A. Shihab, Blair H. Smith, Katrina Tatton‐Brown, John Tolmie, Maciej Trzaskowski, Pradeep Vasudevan, Emma Wakeling, Michael Wright, Robert Plomin, Nicholas J. Timpson, Matthew E. Hurles

    出版 2015
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  20. 20
    Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

    Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring 由 Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo, Louise E Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl‐Jaschkowitz, Claire Turner, Michał Patalan, Maria Giżewska, Gerhard Binder, Cấn Thị Bích Ngọc, Vũ Chí Dũng, Sarju Mehta, Gareth Baynam, Julian Hamilton‐Shield, Sara Aljareh, Oluwakemi Lokulo‐Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I. Karen Temple, Thomas Eggermann, Deborah Mackay

    出版 2018
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