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A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1743, doi. 10.3390/ijms24021743
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- Article
El manejo multidisciplinar mejora el diagnóstico genético de las enfermedades renales hereditarias en la era de next generation sequencing (NGS).
- Published in:
- Nefrologia, 2024, v. 44, n. 1, p. 69, doi. 10.1016/j.nefro.2022.11.003
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- Article
Síndrome orofaciodigital tipo i: en el diagnóstico diferencial de la poliquistosis renal autosómica dominante, a próposito de 3 casos.
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- Nefrologia, 2023, v. 43, n. 2, p. 261, doi. 10.1016/j.nefro.2021.03.012
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- Article
Eccrine syringofibroadenoma as a clue for the diagnosis of Schöpf‐Schulz‐Passarge syndrome in acquired palmoplantar keratoderma.
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- Journal of Cutaneous Pathology, 2020, v. 47, n. 10, p. 987, doi. 10.1111/cup.13743
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- Article
Skipped BSCL2 Transcript in Celia’s Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.
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- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158874
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- Article