Showing 1 - 10 results of 10 for search 'Miguel Ángel Alcántara Ortigoza', query time: 0.17s Refine Results
  1. 1
    General aspects and current view of the molecular study of Phenylketonuria (PKU) in Mexico
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    Article
  2. 2
    Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening
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    Article
  3. 3
    Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction <i>DMD</i> Gene Result: A Study Including Targeted Next-Generation Sequencing
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    Article
  4. 4
    Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in <i>FOXE1</i>, <i>NKX2-5</i> and <i>TSHR</i>
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  5. 5
    Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
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  6. 6
    Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease
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  7. 7
    Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant
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  8. 8
    Effects of Fructans from Mexican Agave in Newborns Fed with Infant Formula: A Randomized Controlled Trial
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  9. 9
    Informe de casos de acidosis tubular renal y errores de diagnóstico
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  10. 10
    Case reports and misdiagnosis of renal tubular acidosis
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    Article
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