תוצאות חיפוש - Monteil, Danielle
- Showing 1 - 6 results of 6
-
1
-
2
-
3
-
4
TRMU deficiency: a broad clinical spectrum responsive to cysteine supplementation מאת Murali, Chaya N., Soler-Alfonso, Claudia, Loomes, Kathleen M., Shah, Amit A., Monteil, Danielle, Padilla, Carmencita D., Scaglia, Fernando, Ganetzky, Rebecca
יצא לאור 2021Text -
5
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities מאת Snijders Blok, Lot, Vino, Arianna, den Hoed, Joery, Underhill, Hunter R., Monteil, Danielle, Li, Hong, Reynoso Santos, Francis Jeshira, Chung, Wendy K., Amaral, Michelle D., Schnur, Rhonda E., Santiago-Sim, Teresa, Si, Yue, Brunner, Han G., Kleefstra, Tjitske, Fisher, Simon E.
יצא לאור 2020Text -
6
The CHD4-Related Syndrome: A Comprehensive Investigation of the Clinical Spectrum, Genotype-Phenotype Correlations and Molecular Basis מאת Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel, Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Wallen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Vergano, Samantha A. Schrier, Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Feldman, Hagit Baris, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., Lachlan, Katherine
יצא לאור 2020Text