Found: 14
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A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2054
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- Article
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63597
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- Article
Data from electronic healthcare records expand our understanding of X‐linked genetic diseases.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63527
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- Article
Probable digenic inheritance of Diamond–Blackfan anemia.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63454
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- Article
A medical odyssey of a 72‐year‐old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2873, doi. 10.1002/ajmg.a.63383
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- Article
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2482, doi. 10.1002/ajmg.a.63309
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- Article
Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 196, doi. 10.1002/ajmg.a.61905
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- Article
Early reattenders to the paediatric emergency department: A prospective cohort study and multivariate analysis.
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- Journal of Paediatrics & Child Health, 2022, v. 58, n. 9, p. 1616, doi. 10.1111/jpc.16061
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- Article
First identification of mammalian orthoreovirus type 3 by gut virome analysis in diarrheic child in Brazil.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-55216-5
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- Article
Norovirus strains in patients with acute gastroenteritis in rural and low-income urban areas in northern Brazil.
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- Archives of Virology, 2021, v. 166, n. 3, p. 905, doi. 10.1007/s00705-020-04944-5
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- Article
Genomic Analyses of Potential Novel Recombinant Human Adenovirus C in Brazil.
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- Viruses (1999-4915), 2020, v. 12, n. 5, p. 508, doi. 10.3390/v12050508
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- Article
Predictors of mortality and disability in stroke-associated pneumonia.
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- Acta Neurologica Belgica, 2021, v. 121, n. 2, p. 379, doi. 10.1007/s13760-019-01148-w
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- Article
Current and Emerging Clinical Treatment in Mitochondrial Disease.
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- Molecular Diagnosis & Therapy, 2021, v. 25, n. 2, p. 181, doi. 10.1007/s40291-020-00510-6
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- Article
Magnetic Resonance Imaging Classification System categorization and emergency hospital admissions for children with cerebral palsy: A longitudinal, population‐based study.
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- Developmental Medicine & Child Neurology, 2022, v. 64, n. 6, p. 734, doi. 10.1111/dmcn.15141
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- Article