Search Results - "Ruaud, L."

Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease by Allou, L., Julia, S., Amsallem, D., El Chehadeh, S., Lambert, L., Thevenon, J., Duffourd, Y., Saunier, A., Bouquet, P., Pere, S., Moustaïne, A., Ruaud, L., Roth, V., Jonveaux, P., Philippe, C.

“…Several genes have been implicated in Rett syndrome (RTT) in its typical and variant forms. We applied next‐generation sequencing (NGS) to evaluate for…”
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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study by Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, Piard, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse

“…Translation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA…”
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Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder by Cabrol, Christelle, Bienvenu, Thierry, Ruaud, Lyse, Girodon, Emmanuelle, Noacco, Gérald, Delobeau, Marine, Fanian, Ferial, Richaud-Thiriez, Bénédicte, Van Maldergem, Lionel, Aubin, François

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Kératodermie aquagénique et mutations du gène CFTR by Cabrol, C., Delobeau, M., Bienvenu, T., Ruaud, L., Girodon, E., Noacco, G., Fanian, F., Van Maldergem, L., Aubin, F.

“…Les lésions cutanées induites par l’eau sont rares et peuvent être associées à des anomalies génétiques. L’association d’une kératodermie aquagénique au cours…”
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Drôle d’allergie à l’eau by Cabrol, C., Bienvenu, T., Van Maldergem, L., Delobeau, M., Ruaud, L., Girodon, E., Noacco, G., Fanian, F., Aubin, F.

“…Les lésions cutanées induites par l’eau sont rares et peuvent être associées à des anomalies génétiques. Nous rapportons l’observation d’une jeune fille âgée…”
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First evidence of somatic embryogenesis from needles of 1-year-old Picea abies plants by RUAUD, J.-N, BERCETCHE, J, PAQUES, M

“…Somatic embryogenesis was obtained from hypocotyls and cotyledons of one month old plantlets of Picea abies. Embryogenic yield was higher with expiants from…”
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