Search Results - Mefford, Heather C.

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

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations by Dias, Kerith-Rae (Author) , Carlston, Colleen M. (Author) , Blok, Laura E. R. (Author) , De Hayr, Lachlan (Author) , Nawaz, Urwah (Author) , Evans, Carey-Anne (Author) , Bayrak-Toydemir, Pinar (Author) , Htun, Stephanie (Author) , Zhu, Ying (Author) , Ma, Alan (Author) , Lynch, Sally Ann (Author) , Moorwood, Catherine (Author) , Stals, Karen (Author) , Ellard, Sian (Author) , Bainbridge, Matthew N. (Author) , Friedman, Jennifer (Author) , Pappas, John G. (Author) , Rabin, Rachel (Author) , Nowak, Catherine B. (Author) , Douglas, Jessica (Author) , Wilson, Theodore E. (Author) , Guillen Sacoto, Maria J. (Author) , Mullegama, Sureni V. (Author) , Palculict, Timothy Blake (Author) , Kirk, Edwin P. (Author) , Pinner, Jason R. (Author) , Edwards, Matthew (Author) , Montanari, Francesca (Author) , Graziano, Claudio (Author) , Pippucci, Tommaso (Author) , Dingmann, Bri (Author) , Glass, Ian (Author) , Mefford, Heather C. (Author) , Shimoji, Takeyoshi (Author) , Suzuki, Toshimitsu (Author) , Yamakawa, Kazuhiro (Author) , Streff, Haley (Author) , Schaaf, Christian P. (Author) , Slavotinek, Anne M. (Author) , Voineagu, Irina (Author) , Carey, John C. (Author) , Buckley, Michael F. (Author) , Schenck, Annette (Author) , Harvey, Robert J. (Author) , Roscioli, Tony (Author) ,

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