Search Results - Barbaro‐Dieber, Tina

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  1. 1
    Primrose syndrome: Characterization of the phenotype in 42 patients

    Primrose syndrome: Characterization of the phenotype in 42 patients by Melis, Daniela, Carvalho, Daniel, Barbaro‐Dieber, Tina, Espay, Alberto J., Gambello, Michael J., Gener, Blanca, Gerkes, Erica, Hitzert, Marrit M., Hove, Hanne B., Jansen, Sandra, Jira, Petr E., Lachlan, Katherine, Menke, Leonie A., Narayanan, Vinodh, Ortiz, Damara, Overwater, Eline, Posmyk, Renata, Ramsey, Keri, Rossi, Alessandro, Sandoval, Renata Lazari, Stumpel, Constance, Stuurman, Kyra E., Cordeddu, Viviana, Turnpenny, Peter, Strisciuglio, Pietro, Tartaglia, Marco, Unger, Sheela, Waters, Todd, Turnbull, Clare, Hennekam, Raoul C.

    Published in Clinical genetics
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  2. 2
    Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome

    Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome by Casertano, Alberto, Fontana, Paolo, Hennekam, Raoul C., Tartaglia, Marco, Genesio, Rita, Dieber, Tina Barbaro, Ortega, Lucia, Nitsch, Lucio, Melis, Daniela

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  3. 3
    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder by Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H., Brimble, Elise, Foulds, Nicola, Grebe, Theresa A., Harder, Aster V.E., Lees, Melissa M., Monaghan, Kristin G., Newbury-Ecob, Ruth A., Ong, Kai-Ren, Osio, Deborah, Reynoso Santos, Francis Jeshira, Ruzhnikov, Maura R.Z., Telegrafi, Aida, van Binsbergen, Ellen, van Dooren, Marieke F., van der Spek, Peter J., Blagg, Julian, Twigg, Stephen R.F., Mathijssen, Irene M.J., Clarke, Paul A., Wilkie, Andrew O.M.

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  4. 4
    De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

    De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism by Tanaka, Akemi J, Cho, Megan T, Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A, Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N, Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K, Anderson, Ilse J, Sacoto, Maria J Guillen, Schnur, Rhonda E, Chung, Wendy K

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