Hakutulokset - Christina Hung

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  1. 1
    Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

    Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) Tekijä Olaf A. Bodamer, Maurizio Scarpa, Christina Hung, Tom Pulles, Roberto Giugliani

    Julkaistu 2017
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  2. 2
    From Genotype to Phenotype—A Review of Kabuki Syndrome

    From Genotype to Phenotype—A Review of Kabuki Syndrome Tekijä Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P Adam, Christina Hung, Olaf A. Bodamer

    Julkaistu 2022
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  3. 3
    Rare variants in<i>SOS2</i>and<i>LZTR1</i>are associated with Noonan syndrome

    Rare variants in<i>SOS2</i>and<i>LZTR1</i>are associated with Noonan syndrome Tekijä Guilherme Lopes Yamamoto, Meire Aguena, Monika Goś, Christina Hung, Jacek Pilch, Somayyeh Fahiminiya, Anna Abramowicz, Ingrid Cristian, Michelle Buscarilli, Michel Satya Naslavsky, Alexsandra C. Malaquias, Mayana Zatz, Olaf A. Bodamer, Jacek Majewski, Alexander A.L. Jorge, Alexandre C. Pereira, Chong Ae Kim, Maria Rita Passos‐Bueno, Débora Romeo Bertola

    Julkaistu 2015
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  4. 4
    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region Tekijä McKenna Kelly, Meredith Park, Ivana Mihalek, Anne Rochtus, Marie Gramm, Eduardo Pérez‐Palma, Erika Axeen, Christina Hung, Heather E. Olson, Lindsay C. Swanson, Irina Anselm, Lauren C. Briere, Frances A. High, David A. Sweetser, Saima Kayani, Molly Snyder, Sophie Calvert, Ingrid E. Scheffer, Edward Yang, Jeff L. Waugh, Dennis Lal, Olaf A. Bodamer, Annapurna Poduri

    Julkaistu 2019
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  5. 5
    De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

    De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes Tekijä Lina Liang, Xia Li, Sébastien Moutton, Samantha A. Schrier Vergano, Benjamin Cogné, Anne de Saint Martin, Anna Hurst, Yushuang Hu, Olaf A. Bodamer, Julien Thévenon, Christina Hung, Bertrand Isidor, Bénédicte Gérard, A. Rega, Sophie Nambot, Daphné Lehalle, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre, Stéphane Bézieau, Leon Dure, Daniel Helbling, David Bick, Chengqi Xu, Qiuyun Chen, Grazia M.S. Mancini, Antonio Vitobello, Qing K. Wang

    Julkaistu 2019
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  6. 6
    Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

    Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia Tekijä Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul‐Sada, Christina Hung, Michael A. Simpson, W.K. Chong, Thomas S. Jacques, Randy Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn Maher, John Spencer, Ania Straatman‐Iwanowska, Paul Gissen, Laila Selim, Guillem Pintos‐Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson

    Julkaistu 2016
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  7. 7
    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder Tekijä Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

    Julkaistu 2019
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