检索结果 - Claverie‐Martin, Felix

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  1. 1
    DNA bending and the initiation of transcription at σ(54)-dependent bacterial promoters

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

    出版 1997
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  2. 2
    Hereditary kidney diseases associated with hypomagnesemia

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

    出版 2021
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  3. 3
    Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement

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

    出版 2015
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  4. 4
    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

    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 由 Carinelli, Soledad, Blanco, Olalla Alvarez, Perdomo-Ramirez, Ana, Claverie-Martin, Felix

    出版 2020
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  5. 5
    Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

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

    出版 2018
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  6. 6
    Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome

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

    出版 2019
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  7. 7
    Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

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

    出版 2019
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  8. 8
    Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome

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

    出版 2020
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  9. 9
    A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting

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

    出版 2003
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  10. 10
    Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

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

    出版 2020
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  11. 11
    Detection of Staphylococcus aureus Clinical Isolates Harboring the ica Gene Cluster Needed for Biofilm Establishment

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

    出版 2002
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  12. 12
    Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene

    Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene 由 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

    出版 2013
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  13. 13
    Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2

    Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2 由 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

    出版 2017
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  14. 14
    Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

    Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 由 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

    出版 2013
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  15. 15
    Correction: Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

    Correction: Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 由 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

    出版 2013
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  16. 16
    The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

    The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) 由 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.

    出版 2021
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