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Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Mol Genet Genomic Med. 2020 Jan;8(1):10.1002/mgg3.1044. doi: 10.1002/mgg3.1044. Epub 2019 Nov 17.
Mol Genet Genomic Med. 2020.
PMID: 31736247
Free PMC article.
Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis.
López-Ramírez S, Santillán-Hernández Y, Carrasco-Gerard E, Rodas-Serrano A, Zenteno JC.
López-Ramírez S, et al. Among authors: rodas serrano a.
Rev Invest Clin. 2020 Dec 1. doi: 10.24875/RIC.20000415. Online ahead of print.
Rev Invest Clin. 2020.
PMID: 33262542
Free article.
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X-linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment.
Bermeo Cabrera MJ, Ordoñez Chacha PR, Reza-Albarrán AA, Ordoñez Chacha AK, Acero MA, Rodas Serrano A.
Bermeo Cabrera MJ, et al. Among authors: rodas serrano a.
Clin Case Rep. 2022 Aug 15;10(8):e6217. doi: 10.1002/ccr3.6217. eCollection 2022 Aug.
Clin Case Rep. 2022.
PMID: 35990385
Free PMC article.
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