Search Results - Ramsey, Keri
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Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum by Verbinnen, Iris (Author) , Douzgou Houge, Sofia (Author) , Hsieh, Tzung-Chien (Author) , Lesmann, Hellen (Author) , Kirchhoff, Aron (Author) , Geneviève, David (Author) , Brimble, Elise (Author) , Lenaerts, Lisa (Author) , Haesen, Dorien (Author) , Levy, Rebecca J. (Author) , Thevenon, Julien (Author) , Faivre, Laurence (Author) , Marco, Elysa (Author) , Chong, Jessica X. (Author) , Bamshad, Mike (Author) , Patterson, Karynne (Author) , Mirzaa, Ghayda M. (Author) , Foss, Kimberly (Author) , Dobyns, William (Author) , White, Susan M. (Author) , Pais, Lynn (Author) , O’Heir, Emily (Author) , Itzikowitz, Raphaela (Author) , Donald, Kirsten A. (Author) , Van der Merwe, Celia (Author) , Mussa, Alessandro (Author) , Cervini, Raffaela (Author) , Giorgio, Elisa (Author) , Roscioli, Tony (Author) , Dias, Kerith-Rae (Author) , Evans, Carey-Anne (Author) , Brown, Natasha J. (Author) , Ruiz, Anna (Author) , Trujillo Quintero, Juan Pablo (Author) , Rabin, Rachel (Author) , Pappas, John (Author) , Yuan, Hai (Author) , Lachlan, Katherine (Author) , Thomas, Simon (Author) , Devlin, Anita (Author) , Wright, Michael (Author) , Martin, Richard (Author) , Karwowska, Joanna (Author) , Posmyk, Renata (Author) , Chatron, Nicolas (Author) , Stark, Zornitza (Author) , Heath, Oliver (Author) , Delatycki, Martin (Author) , Buchert, Rebecca (Author) , Korenke, Georg-Christoph (Author) , Ramsey, Keri (Author) , Narayanan, Vinodh (Author) , Grange, Dorothy K. (Author) , Weisenberg, Judith L. (Author) , Haack, Tobias B. (Author) , Karch, Stephanie (Author) , Kipkemoi, Patricia (Author) , Mangi, Moses (Author) , Bindels de Heus, Karen G. C. B. (Author) , de Wit, Marie-Claire Y. (Author) , Barakat, Tahsin Stefan (Author) , Lim, Derek (Author) , Van Winckel, Géraldine (Author) , Spillmann, Rebecca C. (Author) , Shashi, Vandana (Author) , Jacob, Maureen (Author) , Stehr, Antonia M. (Author) , Krawitz, Peter (Author) , Douzgos Houge, Gunnar (Author) , Janssens, Veerle (Author) ,
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FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants by Mitter, Diana (Author) , Pringsheim, Milka (Author) , Kaulisch, Marc (Author) , Plümacher, Kim Sarah (Author) , Schröder, Simone (Author) , Warthemann, Rita (Author) , Abou Jamra, Rami (Author) , Baethmann, Martina (Author) , Bast, Thomas (Author) , Büttel, Hans-Martin (Author) , Cohen, Julie S. (Author) , Conover, Elizabeth (Author) , Courage, Carolina (Author) , Eger, Angelika (Author) , Fatemi, Ali (Author) , Grebe, Theresa A. (Author) , Hauser, Natalie S. (Author) , Heinritz, Wolfram (Author) , Helbig, Katherine L. (Author) , Heruth, Marion (Author) , Huhle, Dagmar (Author) , Höft, Karen (Author) , Karch, Stephanie (Author) , Kluger, Gerhard (Author) , Korenke, Christoph (Author) , Lemke, Johannes R. (Author) , Lutz, Richard E. (Author) , Patzer, Steffi (Author) , Prehl, Isabelle (Author) , Hoertnagel, Konstanze (Author) , Ramsey, Keri (Author) , Rating, Tina (Author) , Rieß, Angelika (Author) , Rohena, Luis (Author) , Schimmel, Mareike (Author) , Westman, Rachel (Author) , Zech, Frank-Martin (Author) , Zoll, Barbara (Author) , Malzahn, Dörthe (Author) , Zirn, Birgit (Author) , Brockmann, Knut (Author) ,
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Related Subjects
Child
Child, Preschool
DNA Mutational Analysis
Female
Forkhead Transcription Factors
Genetic Association Studies
Genetic Variation
Genotype
Humans
Magnetic Resonance Imaging
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Nerve Tissue Proteins
PP2A
Phenotype
Polymorphism, Single Nucleotide
Rett Syndrome
autism
developmental delay
epilepsy
intellectual disability
macrocephaly
neurodevelopmental disorder
protein phosphatase 2A