Search Results - Barcia, Giulia

The spectrum of neurologic phenotypes associated with NUS1 pathogenic variants: a comprehensive case series by Brooker, Sarah (Author) , Novelli, Maria (Author) , Coukos, Robert (Author) , Prakash, Neha (Author) , Kamel, Walaa A. (Author) , Amengual-Gual, Marta (Author) , Anheim, Mathieu (Author) , Barcia, Giulia (Author) , Bardakjian, Tanya (Author) , Baur, Franciska (Author) , Berweck, Steffen (Author) , Bölsterli, Bigna K. (Author) , Brugger, Melanie (Author) , Cassini, Thomas (Author) , Chatron, Nicolas (Author) , Corner, Brian (Author) , Dafsari, Hormos Salimi (Author) , de Sainte Agathe, Jean-Madeleine (Author) , Ellis, Colin A. (Author) , Ezell, Kimberly M. (Author) , Foucard, Cendrine (Author) , Frucht, Steven J. (Author) , Garcia, Maria C. (Author) , Gill, Deepak (Author) , Guimier, Anne (Author) , Hamid, Rizwan (Author) , Heine-Suñer, Damià (Author) , Herkenrath, Peter (Author) , Hully, Marie (Author) , Isaias, Ioannis U. (Author) , Januel, Louis (Author) , Laurencin, Chloe (Author) , Laut, Taylor (Author) , Lavillaureix, Alinoe (Author) , Lesca, Gaetan (Author) , Lesieur-Sebellin, Marion (Author) , Magistrelli, Luca (Author) , Marelli, Cecilia (Author) , Mefford, Heather C. (Author) , Mendelsohn, Bryce A. (Author) , Mercimek-Andrews, Saadet (Author) , Miller, Claire (Author) , Mohammad, Shekeeb S. (Author) , Morgante, Francesca (Author) , Nandipati, Sirisha (Author) , Opladen, Thomas (Author) , Padmanaban, Mahesh (Author) , Pauni, Micaela (Author) , Pezzoli, Gianni (Author) , Piton, Amelie (Author) , Ramond, Francis (Author) , Riboldi, Giulietta M. (Author) , Rougeot-Jung, Christelle (Author) , Santos-Simarro, Fernando (Author) , Scheffer, Ingrid E. (Author) , Serari, Naoual (Author) , Stahl, Christine M. (Author) , Kung, Ann Stembridge (Author) , Tarongí Sanchez, Susana (Author) , Thauvin-Robinet, Christel (Author) , Till, Marianne (Author) , Tranchant, Christine (Author) , Troedson, Christopher (Author) , Tropea, Thomas F. (Author) , Vanakker, Olivier (Author) , Vega, Patricia (Author) , Wiese, Maxi Leona (Author) , Wieshmann, Udo (Author) , Williams, Laura J. (Author) , Wirth, Thomas (Author) , Zech, Michael (Author) , Zempel, Hans (Author) , Roze, Emmanuel (Author) , Leuzzi, Vincenzo (Author) , Galosi, Serena (Author) , Fung, Victor S. C. (Author) , Carvill, Gemma (Author) , Krainc, Dimitri (Author) , Gerard, Elizabeth (Author) , Mencacci, Niccolò E. (Author) ,

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

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants by Vogel, Georg (Author) , Mozer-Glassberg, Yael (Author) , Landau, Yuval E. (Author) , Schlieben, Lea D. (Author) , Prokisch, Holger (Author) , Feichtinger, René G. (Author) , Mayr, Johannes A. (Author) , Brennenstuhl, Heiko (Author) , Schröter, Julian (Author) , Pechlaner, Agnes (Author) , Alkuraya, Fowzan S. (Author) , Baker, Joshua J. (Author) , Barcia, Giulia (Author) , Baric, Ivo (Author) , Braverman, Nancy (Author) , Burnyte, Birute (Author) , Christodoulou, John (Author) , Ciara, Elzbieta (Author) , Coman, David (Author) , Das, Anibh M. (Author) , Darin, Niklas (Author) , Della Marina, Adela (Author) , Distelmaier, Felix (Author) , Eklund, Erik A. (Author) , Ersoy, Melike (Author) , Fang, Weiyan (Author) , Gaignard, Pauline (Author) , Ganetzky, Rebecca D. (Author) , Gonzales, Emmanuel (Author) , Howard, Caoimhe (Author) , Hughes, Joanne (Author) , Konstantopoulou, Vassiliki (Author) , Kose, Melis (Author) , Kerr, Marina (Author) , Khan, Aneal (Author) , Lenz, Dominic (Author) , McFarland, Robert (Author) , Margolis, Merav Gil (Author) , Morrison, Kevin (Author) , Müller, Thomas (Author) , Murayama, Kei (Author) , Nicastro, Emanuele (Author) , Pennisi, Alessandra (Author) , Peters, Heidi (Author) , Piekutowska-Abramczuk, Dorota (Author) , Rötig, Agnès (Author) , Santer, René (Author) , Scaglia, Fernando (Author) , Schiff, Manuel (Author) , Shagrani, Mohmmad (Author) , Sharrard, Mark (Author) , Soler-Alfonso, Claudia (Author) , Staufner, Christian (Author) , Storey, Imogen (Author) , Stormon, Michael (Author) , Taylor, Robert W. (Author) , Thorburn, David R. (Author) , Teles, Elisa Leao (Author) , Wang, Jian-She (Author) , Weghuber, Daniel (Author) , Wortmann, Saskia (Author) ,

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

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome by Tessadori, Federico (Author) , Duran, Karen (Author) , Knapp, Karen (Author) , Fellner, Matthias (Author) , Smithson, Sarah (Author) , Beleza Meireles, Ana (Author) , Elting, Mariet W. (Author) , Waisfisz, Quinten (Author) , O’Donnell-Luria, Anne (Author) , Nowak, Catherine (Author) , Douglas, Jessica (Author) , Ronan, Anne (Author) , Brunet, Theresa (Author) , Kotzaeridou, Urania (Author) , Svihovec, Shayna (Author) , Saenz, Margarita S. (Author) , Thiffault, Isabelle (Author) , Del Viso, Florencia (Author) , Devine, Patrick (Author) , Rego, Shannon (Author) , Tenney, Jessica (Author) , van Haeringen, Arie (Author) , Ruivenkamp, Claudia A. L. (Author) , Koene, Saskia (Author) , Robertson, Stephen P. (Author) , Deshpande, Charulata (Author) , Pfundt, Rolph (Author) , Verbeek, Nienke (Author) , van de Kamp, Jiddeke M. (Author) , Weiss, Janneke M. M. (Author) , Ruiz, Anna (Author) , Gabau, Elisabeth (Author) , Banne, Ehud (Author) , Pepler, Alexander (Author) , Bottani, Armand (Author) , Laurent, Sacha (Author) , Guipponi, Michel (Author) , Bijlsma, Emilia (Author) , Bruel, Ange-Line (Author) , Sorlin, Arthur (Author) , Willis, Mary (Author) , Powis, Zoe (Author) , Smol, Thomas (Author) , Vincent-Delorme, Catherine (Author) , Baralle, Diana (Author) , Colin, Estelle (Author) , Revencu, Nicole (Author) , Calpena, Eduardo (Author) , Wilkie, Andrew O. M. (Author) , Chopra, Maya (Author) , Cormier-Daire, Valerie (Author) , Keren, Boris (Author) , Afenjar, Alexandra (Author) , Niceta, Marcello (Author) , Terracciano, Alessandra (Author) , Specchio, Nicola (Author) , Tartaglia, Marco (Author) , Rio, Marlene (Author) , Barcia, Giulia (Author) , Rondeau, Sophie (Author) , Colson, Cindy (Author) , Bakkers, Jeroen (Author) , Mace, Peter D. (Author) , Bicknell, Louise S. (Author) , van Haaften, Gijs (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext