Výsledky vyhledávání - Baumer, Alessandra

No Evidence for Mutations of CTCFL/BORIS in Silver-Russell Syndrome Patients with IGF2/H19 Imprinting Control Region 1 Hypomethylation Autor Bernier-Latmani, Jeremiah, Baumer, Alessandra, Shaw, Phillip

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Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome Autor Gschwind, Markus, Foletti, Giovanni, Baumer, Alessandra, Bottani, Armand, Novy, Jan

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CUGC for Simpson-Golabi-Behmel syndrome (SGBS) Autor Vuillaume, Marie-Laure, Moizard, Marie-Pierre, Baumer, Alessandra, Cottereau, Edouard, Brioude, Frédéric, Rauch, Anita, Toutain, Annick

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Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature Autor Gogoll, Laura, Steindl, Katharina, Joset, Pascal, Zweier, Markus, Baumer, Alessandra, Gerth‐Kahlert, Christina, Tutschek, Boris, Rauch, Anita

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Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18 Autor Kariminejad, Ariana, Kariminejad, Roxana, Moshtagh, Azadeh, Zanganeh, Maryam, Kariminejad, Mohammad Hassan, Neuenschwander, Stefan, Okoniewski, Michal, Wey, Eva, Schinzel, Albert, Baumer, Alessandra

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Apcdd1 is a novel Wnt inhibitor Mutated in Hereditary Hypotrichosis Simplex Autor Shimomura, Yutaka, Agalliu, Dritan, Vonica, Alin, Luria, Victor, Wajid, Muhammad, Baumer, Alessandra, Belli, Serena, Petukhova, Lynn, Schinzel, Albert, Brivanlou, Ali H., Barres, Ben A., Christiano, Angela M.

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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability Autor Asadollahi, Reza, Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris, Rauch, Anita

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Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 Autor Sharp, Andrew J., Migliavacca, Eugenia, Dupre, Yann, Stathaki, Elisavet, Sailani, Mohammad Reza, Baumer, Alessandra, Schinzel, Albert, Mackay, Deborah J., Robinson, David O., Cobellis, Gilda, Cobellis, Luigi, Brunner, Han G., Steiner, Bernhard, Antonarakis, Stylianos E.

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Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6) Autor Templin, Christian, Ghadri, Jelena-Rima, Rougier, Jean-Sébastien, Baumer, Alessandra, Kaplan, Vladimir, Albesa, Maxime, Sticht, Heinrich, Rauch, Anita, Puleo, Colleen, Hu, Dan, Barajas-Martinez, Héctor, Antzelevitch, Charles, Lüscher, Thomas F., Abriel, Hugues, Duru, Firat

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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders Autor Boonsawat, Paranchai, Horn, Anselm H. C., Steindl, Katharina, Baumer, Alessandra, Joset, Pascal, Kraemer, Dennis, Bahr, Angela, Ivanovski, Ivan, Cabello, Elena M., Papik, Michael, Zweier, Markus, Oneda, Beatrice, Sirleto, Pietro, Burkhardt, Tilo, Sticht, Heinrich, Rauch, Anita

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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes Autor Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza, Sticht, Heinrich, Zeilhofer, Hanns Ulrich, Rauch, Anita

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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex Autor Romano, Maria-Teresa, Tafazzoli, Aylar, Mattern, Maximilian, Sivalingam, Sugirthan, Wolf, Sabrina, Rupp, Alexander, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Ellwanger, Jürgen, Gambon, Reto, Baumer, Alessandra, Kohlschmidt, Nicolai, Metze, Dieter, Holdenrieder, Stefan, Paus, Ralf, Lütjohann, Dieter, Frank, Jorge, Geyer, Matthias, Bertolini, Marta, Kokordelis, Pavlos, Betz, Regina C.

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The clinical significance of small copy number variants in neurodevelopmental disorders Autor Asadollahi, Reza, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G, Rauch, Anita

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Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling Autor Asadollahi, Reza, Strauss, Justin E, Zenker, Martin, Beuing, Oliver, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael, Schinzel, Albert, Stoeckli, Esther T, Rauch, Anita

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study Autor Papuc, Sorina M., Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L., Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M., Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara, Rauch, Anita

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies Autor Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A., van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B., Destree, Anne, Smigiel, Robert, Lambie, Lindsday A., Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G., Mihci, Ercan, Moreira, Lilia M. A., Borges Ferreira, Viviane, Horovitz, Dafne D. G., da Rocha, Katia M., Jezela-Stanek, Aleksandra, Brooks, Alice S., Reutter, Heiko, Cohen, Julie S., Fatemi, Ali, Smitka, Martin, Grebe, Theresa A., Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A., De Vries, Bert B. A., Schinzel, Albert, Fisher, Simon E., Hoischen, Alexander, van Bon, Bregje W.

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