Resultados da busca - Orrico, Alfredo

Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia) por Orrico, Alfredo, Galli, Lucia, Clayton-Smith, Jill, Fryns, Jean-Pierre

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Analysis of malignant hyperthermia results in Padua and Siena por Tegazzin, Vincenzo, Orrico, Alfredo, Galli, Lucia, Fanin, Marina, Rossi, Daniela

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Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices por Zaami, Simona, Orrico, Alfredo, Signore, Fabrizio, Cavaliere, Anna Franca, Mazzi, Marta, Marinelli, Enrico

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Complete clinical and functional recovery following low-dose methotrexate related paraparesis in a patient with compound c.1298A>C AND c.677C>T MTHFR polymorphism: A case report por Saviola, Gianantonio, Abdi-Ali, Lul, Sacco, Silvano, Comini, Laura, Plewnia, Katrin, Rossi, Maja, Orrico, Alfredo

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Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Revie... por Orrico, Alfredo, Marseglia, Giuseppina, Pescucci, Chiara, Cortesi, Ambra, Piomboni, Paola, Giansanti, Andrea, Gerundino, Francesca, Ponchietti, Roberto

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Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the... por Cinque, Luigia, Angeletti, Cristina, Orrico, Alfredo, Castellana, Stefano, Ferrito, Lucia, Ciuoli, Cristina, Mazza, Tommaso, Castori, Marco, Guarnieri, Vito

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A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres por Rossi, Daniela, De Smet, Patrick, Lyfenko, Alla, Galli, Lucia, Lorenzini, Stefania, Franci, Daniela, Petrioli, Francesco, Orrico, Alfredo, Angelini, Corrado, Tegazzin, Vincenzo, Dirksen, Robert, Sorrentino, Vincenzo

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The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review por Zanetti Drumond, Victor, Sousa Salgado, Lucas, Sousa Salgado, Camila, Oliveira, Vitor Augusto de Lima, de Assis, Eliene Magda, Campos Ribeiro, Michel, Furtado Valadão, Analina, Orrico, Alfredo

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CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila por Zweier, Christiane, de Jong, Eiko K., Zweier, Markus, Orrico, Alfredo, Ousager, Lilian B., Collins, Amanda L., Bijlsma, Emilia K., Oortveld, Merel A.W., Ekici, Arif B., Reis, André, Schenck, Annette, Rauch, Anita

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Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) por Zweier, Christiane, Peippo, Maarit M., Hoyer, Juliane, Sousa, Sérgio, Bottani, Armand, Clayton-Smith, Jill, Reardon, William, Saraiva, Jorge, Cabral, Alexandra, Göhring, Ina, Devriendt, Koen, de Ravel, Thomy, Bijlsma, Emilia K., Hennekam, Raoul C. M., Orrico, Alfredo, Cohen, Monika, Dreweke, Alexander, Reis, André, Nürnberg, Peter, Rauch, Anita

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Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes por Doddato, Gabriella, Valentino, Floriana, Giliberti, Annarita, Papa, Filomena Tiziana, Tita, Rossella, Bruno, Lucia Pia, Resciniti, Sara, Fallerini, Chiara, Benetti, Elisa, Palmieri, Maria, Mencarelli, Maria Antonietta, Fabbiani, Alessandra, Bruttini, Mirella, Orrico, Alfredo, Baldassarri, Margherita, Fava, Francesca, Lopergolo, Diego, Lo Rizzo, Caterina, Lamacchia, Vittoria, Mannucci, Sara, Pinto, Anna Maria, Currò, Aurora, Mancini, Virginia, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca

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Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes por Doddato, Gabriella, Valentino, Floriana, Giliberti, Annarita, Papa, Filomena Tiziana, Tita, Rossella, Bruno, Lucia Pia, Resciniti, Sara, Fallerini, Chiara, Benetti, Elisa, Palmieri, Maria, Mencarelli, Maria Antonietta, Fabbiani, Alessandra, Bruttini, Mirella, Orrico, Alfredo, Baldassarri, Margherita, Fava, Francesca, Lopergolo, Diego, Rizzo, Caterina Lo, Lamacchia, Vittoria, Mannucci, Sara, Pinto, Anna Maria, Currò, Aurora, Mancini, Virginia, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca

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PEDIA: prioritization of exome data by image analysis por Hsieh, Tzung-Chien, Mensah, Martin A., Pantel, Jean T., Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B., Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Đukić, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Reina, Purificación Marín, Carrascal, Antonio Martinez, Mitter, Diana, Herrador, Laura Morlan, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wiśniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.

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