Search Results - Romero‐Salas, Yolanda

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  1. 1
    Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene

    Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene by Baquedano‐Lobera, Irene, Romero‐Salas, Yolanda, Ros‐Arnal, Ignacio, Miramar‐Gallart, María Dolores, López‐Pisón, Javier, Corona‐Bellostas, Carolina, García‐Romero, Ruth

    Published in Clinical genetics
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  2. 2
    Secondary pseudohypoaldosteronism: a 15-year experience and a literature review

    Secondary pseudohypoaldosteronism: a 15-year experience and a literature review by Moreno Sánchez, Amelia, García Atarés, Álvaro, Molina Herranz, David, Antoñanzas Torres, Irene, Romero Salas, Yolanda, Ruiz del Olmo Izuzquiza, José Ignacio

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  3. 3
    A case report of apparent mineralocorticoid excess, with nephrological and neurological symptoms since birth, and with a new probably pathogenic variant in HSD11B2 gene

    A case report of apparent mineralocorticoid excess, with nephrological and neurological symptoms since birth, and with a new probably pathogenic variant in HSD11B2 gene by Hernández Tejedor, Cristina, Romero Salas, Yolanda, Miramar Gallart, María Dolores, Bríngola Moñux, Alberto José, Sánchez Malo, María José, Peña Segura, José Luis

    Published in Nefrología
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  4. 4
    Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation

    Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation by Adam Lancet, Victor, Romero Salas, Yolanda, Justa Roldán, María Luisa, García Jiménez, María Concepción, Ariceta Iraola, Gema

    Published in Anales de Pediatría
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  5. 5
    A propósito de un caso de exceso aparente de mineralocorticoides, con clínica nefrológica y neurológica desde el nacimiento, y con nueva variante probablemente patogénica en gen HSD11B2

    A propósito de un caso de exceso aparente de mineralocorticoides, con clínica nefrológica y neurológica desde el nacimiento, y con nueva variante probablemente patogénica en gen HS... by Hernández Tejedor, Cristina, Romero Salas, Yolanda, Miramar Gallart, María Dolores, Bríngola Moñux, Alberto José, Sánchez Malo, María José, Peña Segura, José Luis

    Published in Nefrología
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  6. 6
    Encefalopatía, fallo renal y retinopatía. Déficit de CoQ10 por mutación de COQ8B

    Encefalopatía, fallo renal y retinopatía. Déficit de CoQ10 por mutación de COQ8B by Adán Lanceta, Víctor, Romero Salas, Yolanda, Justa Roldán, María Luisa, García Jiménez, María Concepción, Ariceta Iraola, Gema

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  7. 7
    Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation

    Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation by Victor Adam Lancet, Yolanda Romero Salas, María Luisa Justa Roldán, María Concepción García Jiménez, Gema Ariceta Iraola

    Published in Anales de Pediatría
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  8. 8
    Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation

    Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation by Adán Lanceta, Víctor, Romero Salas, Yolanda, Justa Roldán, María Luisa, García Jiménez, María Concepción, Ariceta Iraola, Gema

    Published in Anales de Pediatría
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  9. 9
    Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation

    Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation by Adán Lanceta, Victor, Romero Salas, Yolanda, Justa Roldán, María Luisa, García Jiménez, María Concepción, Ariceta Iraola, Gema

    Published in Anales de pediatria
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  10. 10
    Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene

    Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene by Baquedano-Lobera, Irene, Romero-Salas, Yolanda, Ros-Arnal, Ignacio, Miramar-Gallart, María Dolores, López-Pisón, Javier, Corona-Bellostas, Carolina, García-Romero, Ruth

    Published in Clinical genetics
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