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Fenotipo de miopatía congénita central core autosómica dominante con alteraciones del gen RYR1. A propósito de un caso clínico.
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- Acta Pediatrica de Mexico, 2022, v. 43, n. 6, p. 353, doi. 10.18233/APM43No6pp353-3572375
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- Article
Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 7, p. 1, doi. 10.1002/mgg3.1957
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- Article
Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
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- Scandinavian Journal of Immunology, 2022, v. 95, n. 4, p. 1, doi. 10.1111/sji.13136
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- Article
High penetrance of EDA pathogenic variants in Mexican female carriers with hypohidrotic ectodermal dysplasia.
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- Dermatologica Sinica, 2020, v. 38, n. 3, p. 172, doi. 10.4103/ds.ds_19_20
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- Article
Exploring single nucleotide polymorphisms previously related to obesity and metabolic traits in pediatric-onset type 2 diabetes.
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- Acta Diabetologica, 2017, v. 54, n. 7, p. 653, doi. 10.1007/s00592-017-0987-9
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- Article
Importance of the diagnosis of protein connexin 26 mutations in the integral management of nonsyndromic congenital deafness.
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- Boletín Médico del Hospital Infantil de México, 2013, v. 70, n. 2, p. 88
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- Article
Multiple Mechanisms Contribute to Leakiness of a Frameshift Mutation in Canine Cone-Rod Dystrophy.
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- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051598
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- Article
Genetic structure of three Native Mexican communities based on mtDNA haplogroups, and ABO and Rh blood group systems.
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- Clinical & Translational Investigation / Revista de Investigación Clínica, 2011, v. 63, n. 6, p. 614
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- Article
A single drug-resistance mutation in HSV-1 UL52 primase points to a difference between two helicase-primase inhibitors in their mode of interaction with the antiviral target.
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- Journal of Antimicrobial Chemotherapy (JAC), 2008, v. 61, n. 5, p. 1044, doi. 10.1093/jac/dkn057
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- Article
The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9.
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- BMC Veterinary Research, 2007, v. 3, p. 14, doi. 10.1186/1746-6148-3-14
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- Article