Found: 6
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Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3804, doi. 10.1002/ajmg.a.62453
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- Article
A multidisciplinary nephrogenetic referral clinic for children and adults—diagnostic achievements and insights.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 7, p. 1623, doi. 10.1007/s00467-021-05374-4
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- Article
Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.01775
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- Article
Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain‐of‐function.
- Published in:
- Clinical & Experimental Immunology, 2021, v. 206, n. 1, p. 56, doi. 10.1111/cei.13636
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- Article
Neonatal osteoma cutis due to a mutation in GNAS.
- Published in:
- Pediatric Dermatology, 2019, v. 36, n. 5, p. 732, doi. 10.1111/pde.13879
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- Article
Biases in the SMART-DNA library preparation method associated with genomic poly dA/dT sequences.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172769
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- Article