Výsledky vyhledávání - Monteil, Danielle

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

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

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

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

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

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

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