Search Results - Hsieh, Tzung-Chien

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) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings by Schmidt, Axel (Author) , Danyel, Magdalena (Author) , Grundmann-Hauser, Kathrin (Author) , Brunet, Theresa (Author) , Klinkhammer, Hannah (Author) , Hsieh, Tzung-Chien (Author) , Engels, Hartmut (Author) , Schlapakow, Elena (Author) , Hempel, Maja (Author) , Tibelius, Alexandra (Author) , Schwaibold, Eva (Author) , Schaaf, Christian P. (Author) , Zawada, Michal (Author) , Kaufmann, Lilian (Author) , Hinderhofer, Katrin (Author) , Okun, Pamela M. (Author) , Kotzaeridou, Urania (Author) , Hoffmann, Georg F. (Author) , Choukair, Daniela (Author) , Bettendorf, Markus (Author) ,

• Resolving-System, kostenfrei
• Resolving-System, kostenfrei

PHIP-associated Chung-Jansen syndrome: report of 23 new individuals by Kampmeier, Antje (Author) , Leitão, Elsa (Author) , Parenti, Ilaria (Author) , Beygo, Jasmin (Author) , Depienne, Christel (Author) , Bramswig, Nuria C (Author) , Hsieh, Tzung-Chien (Author) , Afenjar, Alexandra (Author) , Beck-Wödl, Stefanie (Author) , Grasshoff, Ute (Author) , Haack, Tobias B (Author) , Bijlsma, Emilia K (Author) , Ruivenkamp, Claudia (Author) , Lausberg, Eva (Author) , Elbracht, Miriam (Author) , Haanpää, Maria K (Author) , Koillinen, Hannele (Author) , Heinrich, Uwe (Author) , Rost, Imma (Author) , Jamra, Rami Abou (Author) , Popp, Denny (Author) , Koch-Hogrebe, Margarete (Author) , Rostasy, Kevin (Author) , López-González, Vanesa (Author) , Sanchez-Soler, María José (Author) , Macedo, Catarina (Author) , Schmetz, Ariane (Author) , Steinborn, Carmen (Author) , Weidensee, Sabine (Author) , Lesmann, Hellen (Author) , Marbach, Felix (Author) , Caro, Pilar (Author) , Schaaf, Christian P. (Author) , Krawitz, Peter (Author) , Wieczorek, Dagmar (Author) , Kaiser, Frank J (Author) , Kuechler, Alma (Author) ,

• Verlag, lizenzpflichtig, Volltext