Sökresultat - Perdomo-Ramirez, Ana

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  1. 1
    Hereditary kidney diseases associated with hypomagnesemia

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

    Publicerad 2021
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  2. 2
    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 av Carinelli, Soledad, Blanco, Olalla Alvarez, Perdomo-Ramirez, Ana, Claverie-Martin, Felix

    Publicerad 2020
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  3. 3
    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 av Suarez-Artiles, Lorena, Perdomo-Ramirez, Ana, Ramos-Trujillo, Elena, Claverie-Martin, Felix

    Publicerad 2018
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  4. 4
    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 av Perdomo-Ramirez, Ana, de Armas-Ortiz, Marian, Ramos-Trujillo, Elena, Suarez-Artiles, Lorena, Claverie-Martin, Felix

    Publicerad 2019
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  5. 5
    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 av Perdomo-Ramirez, Ana, Antón-Gamero, Montserrat, Rizzo, Daniela Sakaguchi, Trindade, Amelia, Ramos-Trujillo, Elena, Claverie-Martin, Felix

    Publicerad 2020
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  6. 6
    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 av García‐Castaño, Alejandro, Perdomo‐Ramirez, Ana, Vall‐Palomar, Mònica, Ramos‐Trujillo, Elena, Madariaga, Leire, Ariceta, Gema, Claverie‐Martin, Felix

    Publicerad 2020
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