Результаты поиска - Claverie‐Martin, Felix

DNA bending and the initiation of transcription at σ(54)-dependent bacterial promoters по Carmona, Manuel, Claverie-Martin, Felix, Magasanik, Boris

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Hereditary kidney diseases associated with hypomagnesemia по Claverie-Martin, Felix, Perdomo-Ramirez, Ana, Garcia-Nieto, Victor

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Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement по Claverie-Martín, Félix, Vargas-Poussou, Rosa, Müller, Dominik, García-Nieto, Víctor

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Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report по Carinelli, Soledad, Blanco, Olalla Alvarez, Perdomo-Ramirez, Ana, Claverie-Martin, Felix

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Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease по Suarez-Artiles, Lorena, Perdomo-Ramirez, Ana, Ramos-Trujillo, Elena, Claverie-Martin, Felix

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Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome по Claverie-Martin, Felix, Trindade, Amelia, Garcia-Gonzalez, Noriela C., Callejon, Alicia Callejon

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Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations по Perdomo-Ramirez, Ana, de Armas-Ortiz, Marian, Ramos-Trujillo, Elena, Suarez-Artiles, Lorena, Claverie-Martin, Felix

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Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome по Perdomo-Ramirez, Ana, Antón-Gamero, Montserrat, Rizzo, Daniela Sakaguchi, Trindade, Amelia, Ramos-Trujillo, Elena, Claverie-Martin, Felix

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A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting по Müller, Dominik, Kausalya, P. Jaya, Claverie-Martin, Felix, Meij, Iwan C., Eggert, Paul, Garcia-Nieto, Victor, Hunziker, Walter

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Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis по García‐Castaño, Alejandro, Perdomo‐Ramirez, Ana, Vall‐Palomar, Mònica, Ramos‐Trujillo, Elena, Madariaga, Leire, Ariceta, Gema, Claverie‐Martin, Felix

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Detection of Staphylococcus aureus Clinical Isolates Harboring the ica Gene Cluster Needed for Biofilm Establishment по VictoriaMartín-López, Juana, Pérez-Roth, Eduardo, Claverie-Martín, Félix, Díez Gil, Oscar, Batista, Ninivé, Morales, Manuel, Méndez-Álvarez, Sebastián

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Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene по Ramos-Trujillo, Elena, Claverie-Martin, Felix, Garcia-Nieto, Victor, Ariceta, Gema, Vara, Julia, Gonzalez-Acosta, Hilaria, Garcia-Ramirez, Marta, Fons, Jaime, Cordoba-Lanus, Elizabeth, Gonzalez-Paredes, Javier, Valenciano, Blanca, Ramos, Leticia, Muley, Rafael, Caggiani, Marina, Alvarez-Estrada, Pilar, Madrid, Alvaro

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Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2 по Giménez-Mascarell, Paula, Oyenarte, Iker, Hardy, Serge, Breiderhoff, Tilman, Stuiver, Marchel, Kostantin, Elie, Diercks, Tammo, Pey, Angel L., Ereño-Orbea, June, Martínez-Chantar, María Luz, Khalaf-Nazzal, Reham, Claverie-Martin, Felix, Müller, Dominik, Tremblay, Michel L., Martínez-Cruz, Luis Alfonso

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Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis по Claverie-Martín, Félix, García-Nieto, Víctor, Loris, Cesar, Ariceta, Gema, Nadal, Inmaculada, Espinosa, Laura, Fernández-Maseda, Ángeles, Antón-Gamero, Montserrat, Avila, África, Madrid, Álvaro, González-Acosta, Hilaria, Córdoba-Lanus, Elizabeth, Santos, Fernando, Gil-Calvo, Marta, Espino, Mar, García-Martinez, Elena, Sanchez, Ana, Muley, Rafael

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Correction: Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis по Claverie-Martín, Félix, García-Nieto, Víctor, Loris, Cesar, Ariceta, Gema, Nadal, Inmaculada, Espinosa, Laura, Fernández-Maseda, Ángeles, Antón-Gamero, Montserrat, Avila, África, Madrid, Álvaro, González-Acosta, Hilaria, Córdoba-Lanus, Elizabeth, Santos, Fernando, Gil-Calvo, Marta, Espino, Mar, García-Martinez, Elena, Sanchez, Ana, Muley, Rafael

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The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) по Franken, Gijs A. C., Müller, Dominik, Mignot, Cyril, Keren, Boris, Lévy, Jonathan, Tabet, Anne‐Claude, Germanaud, David, Tejada, María‐Isabel, Kroes, Hester Y., Nievelstein, Rutger A. J., Brimble, Elise, Ruzhnikov, Maria, Claverie‐Martin, Felix, Szczepańska, Maria, Ćuk, Martin, Latta, Femke, Konrad, Martin, Martínez‐Cruz, Luis A., Bindels, René J. M., Hoenderop, Joost G. J., Schlingmann, Karl‐Peter, de Baaij, Jeroen H. F.

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