Torthaí cuardaigh - Monteil, Danielle

Peripartum management of patient with long QT3 after successful implantable cardioverter defibrillator device discharge resulting in device failure: a case report de réir Lee, Melissa J, Monteil, Danielle C, Spooner, Michael T

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Field template-based design and biological evaluation of new sphingosine kinase 1 inhibitors de réir Alshaker, Heba, Srivats, Shyam, Monteil, Danielle, Wang, Qi, Low, Caroline M. R., Pchejetski, Dmitri

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Genetic and Phenotypic Heterogeneity in KIAA0753-related Ciliopathies de réir Inskeep, Katherine A., Zarate, Yuri A., Monteil, Danielle, Spranger, Jurgen, Doherty, Dan, Stottmann, Rolf W., Weaver, K. Nicole

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

TRMU deficiency: a broad clinical spectrum responsive to cysteine supplementation de réir Murali, Chaya N., Soler-Alfonso, Claudia, Loomes, Kathleen M., Shah, Amit A., Monteil, Danielle, Padilla, Carmencita D., Scaglia, Fernando, Ganetzky, Rebecca

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities de réir 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.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

The CHD4-Related Syndrome: A Comprehensive Investigation of the Clinical Spectrum, Genotype-Phenotype Correlations and Molecular Basis de réir 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

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán