Mostrar 1 - 3 resultats de 3 per cerca 'Eyby Leon', hora de la petició: 0.02sec Refinar resultats
  1. 1
    P373: Third patient with biallelic variants in SMAD6 with an overlapping phenotype: Delays, dysmorphic features, and cardiovascular problems

    P373: Third patient with biallelic variants in SMAD6 with an overlapping phenotype: Delays, dysmorphic features, and cardiovascular problems per Eyby Leon

    Publicat 2024-01-01
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    Article
  2. 2
    P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder

    P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder per Kim Keppler-Noreuil, Sharon Luu, Katryn Furuya, Seth Berger, Eyby Leon

    Publicat 2024-01-01
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    Article
  3. 3
    P227: De novo GATA4 deletion in a 46,XX boy with hypospadias and pulmonic valve stenosis

    P227: De novo GATA4 deletion in a 46,XX boy with hypospadias and pulmonic valve stenosis per Eyby Leon, Veronica Gomez-Lobo, Kim Shimy, Maureen Monaghan, Eric Vilain, Daniel Casella, Emmanuele Delot

    Publicat 2023-01-01
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    Article

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