The secret lives of soviet women writers von Armstrong, Judith

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Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach von Pascual-Alonso, Ainhoa, Xiol, Clara, Smirnov, Dmitrii, Kopajtich, Robert, Prokisch, Holger, Armstrong, Judith

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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism von Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith

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Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA von Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene-Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger-Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf-Greulich, Bitten, Wieland, Ilse, Zenker, Martin, Vikkula, Miikka

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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA von Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene-Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger-Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf-Greulich, Bitten, Wieland, Ilse, Zenker, Martin, Vikkula, Miikka

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Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome von Duarte, Sofia Temudo, Armstrong, Judith, Roche, Ana, Ortez, Carlos, Pérez, Ana, O'Callaghan, Maria del Mar, Pereira, Antonina, Sanmartí, Francesc, Ormazábal, Aida, Artuch, Rafael, Pineda, Mercedes, García-Cazorla, Angels

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Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling von Miranda-Lourenço, Catarina, Duarte, Sofia T., Palminha, Cátia, Gaspar, Cláudia, Rodrigues, Tiago M., Magalhães-Cardoso, Teresa, Rei, Nádia, Colino-Oliveira, Mariana, Gomes, Rui, Ferreira, Sara, Rosa, Jéssica, Xapelli, Sara, Armstrong, Judith, García-Cazorla, Àngels, Correia-de-Sá, Paulo, Sebastião, Ana M., Diógenes, Maria José

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Mutations in JMJD1C are involved in Rett syndrome and intellectual disability von Sáez, Mauricio A., Fernández-Rodríguez, Juana, Moutinho, Catia, Sanchez-Mut, Jose V., Gomez, Antonio, Vidal, Enrique, Petazzi, Paolo, Szczesna, Karolina, Lopez-Serra, Paula, Lucariello, Mario, Lorden, Patricia, Delgado-Morales, Raul, de la Caridad, Olga J., Huertas, Dori, Gelpí, Josep L., Orozco, Modesto, López-Doriga, Adriana, Milà, Montserrat, Perez-Jurado, Luís A., Pineda, Mercedes, Armstrong, Judith, Lázaro, Conxi, Esteller, Manel

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Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum von López, María, García-Oguiza, Alberto, Armstrong, Judith, García-Cobaleda, Inmaculada, García-Miñaur, Sixto, Santos-Simarro, Fernando, Seidel, Verónica, Domínguez-Garrido, Elena

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Gamma‐aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders von Cortès‐Saladelafont, Elisenda, Molero‐Luis, Marta, Cuadras, Daniel, Casado, Mercedes, Armstrong‐Morón, Judith, Yubero, Dèlia, Montoya, Julio, Artuch, Rafael, García‐Cazorla, Àngels, Ramos, Federico, Sierra, Cristina, Ormazábal, Aida, O'Callaghan‐Gordo, Mar, Nascimento‐Osorio, Andrés, Ortez‐González, Carlos Ignacio, Sanmartí‐Vilaplana, Francesc, Fons, Carme, González‐Álvarez, Verónica, Pérez‐Dueñas, Belén, Darling, Alejandra, Ortigoza‐Escobar, Juan Darío, Poo, Pilar, Duarte, Sofia, García‐Alix, Alfredo, Emperador, Sonia, Ruiz‐Pesini, Eduardo

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Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy von Olivé, Montse, Odgerel, Zagaa, Martínez, Amaia, Poza, Juan José, Bragado, Federico García, Zabalza, Ramón J, Jericó, Ivonne, Gonzalez-Mera, Laura, Shatunov, Alexey, Lee, Hee Suk, Armstrong, Judith, Maraví, Elías, Arroyo, Maria Ramos, Pascual-Calvet, Jordi, Navarro, Carmen, Paradas, Carmen, Huerta, Mariano, Marquez, Fabian, Rivas, Eduardo Gutierrez, Pou, Adolf, Ferrer, Isidre, Goldfarb, Lev G

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MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables von Vega-Hanna, Lourdes, Casas-Alba, Dídac, Balsells, Sol, Bolasell, Mercè, Rubio, Patricia, García-García, Ana, García-García, Oscar, O'Callaghan, Mar, Pascual-Alonso, Ainhoa, Armstrong, Judith, Mds Group, Martinez-Monseny, Antonio F

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Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome von Siqueira, Edilene, Obiols-Guardia, Aida, Jorge-Torres, Olga C., Oliveira-Mateos, Cristina, Soler, Marta, Ramesh-Kumar, Deepthi, Setién, Fernando, van Rossum, Daniëlle, Pascual-Alonso, Ainhoa, Xiol, Clara, Ivan, Cristina, Shimizu, Masayoshi, Armstrong, Judith, Calin, George A., Pasterkamp, R. Jeroen, Esteller, Manel, Guil, Sonia

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Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease von Andrade-Campos, Marcio, Alfonso, Pilar, Irun, Pilar, Armstrong, Judith, Calvo, Carmen, Dalmau, Jaime, Domingo, Maria-Rosario, Barbera, Jose-Luis, Cano, Horacio, Fernandez-Galán, Maria-Angeles, Franco, Rafael, Gracia, Inmaculada, Gracia-Antequera, Miguel, Ibañez, Angela, Lendinez, Francisco, Madruga, Marcos, Martin-Hernández, Elena, O'Callaghan, Maria Del Mar, Del Soto, Alberto Pérez, Del Prado, Yolanda Ruiz, Sancho-Val, Ignacio, Sanjurjo, Pablo, Pocovi, Miguel, Giraldo, Pilar

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Effects of Formalin Fixation, Paraffin Embedding, and Time of Storage on DNA Preservation in Brain Tissue: A BrainNet Europe Study von Ferrer, Isidre, Armstrong, Judith, Capellari, Sabina, Parchi, Piero, Arzberger, Thomas, Bell, Jeanne, Budka, Herbert, Ströbel, Thomas, Giaccone, Giorgio, Rossi, Giacomina, Bogdanovic, Nenad, Fakai, Peter, Schmitt, Andrea, Riederers, Peter, Al-Sarraj, Safa, Ravid, Rivka, Kretzschmar, Hans

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Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype von Lucariello, Mario, Vidal, Enrique, Vidal, Silvia, Saez, Mauricio, Roa, Laura, Huertas, Dori, Pineda, Mercè, Dalfó, Esther, Dopazo, Joaquin, Jurado, Paola, Armstrong, Judith, Esteller, Manel

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Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report von Amato, Maria Eugenia, Ricart, Silvia, Vicente, Maria Asunción, Martorell, Loreto, Armstrong, Judith, Fernández Isern, Guerau, Mascaro, José Manuel, Balsells, Sol, Alonso, Itziar, Serrano, Mercedes, Ortigoza‐Escobar, Juan Darío

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Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations von Hortigüela, Montesclaros, Fernández-Marmiesse, Ana, Cantarín, Verónica, Gouveia, Sofía, García-Peñas, Juan J, Fons, Carmen, Armstrong, Judith, Barrios, Desirée, Díaz-Flores, Felícitas, Tirado, Pilar, Couce, María L, Gutiérrez-Solana, Luis G

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New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients von Pérez‐Grijalba, Virginia, García‐Oguiza, Alberto, López, María, Armstrong, Judith, García‐Miñaur, Sixto, Mesa‐Latorre, Jose María, O'Callaghan, Mar, Pineda Marfa, Mercé, Ramos‐Arroyo, Maria Antonia, Santos‐Simarro, Fernando, Seidel, Verónica, Domínguez‐Garrido, Elena

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Analysis of the Phenotypes in the Rett Networked Database von Frullanti, Elisa, Papa, Filomena T., Grillo, Elisa, Clarke, Angus, Ben-Zeev, Bruria, Pineda, Mercedes, Bahi-Buisson, Nadia, Bienvenu, Thierry, Armstrong, Judith, Roche Martinez, Ana, Mari, Francesca, Nissenkorn, Andreea, Lo Rizzo, Caterina, Veneselli, Edvige, Russo, Silvia, Vignoli, Aglaia, Pini, Giorgio, Djuric, Milena, Bisgaard, Anne-Marie, Ravn, Kirstine, Bosnjak, Vlatka Mejaski, Hayek, Joussef, Khajuria, Rajni, Montomoli, Barbara, Cogliati, Francesca, Pintaudi, Maria, Hadzsiev, Kinga, Craiu, Dana, Voinova, Victoria, Djukic, Aleksandra, Villard, Laurent, Renieri, Alessandra

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