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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.78469
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- Publication type:
- Article
Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 8, p. 3789, doi. 10.1007/s00431-023-05045-6
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- Publication type:
- Article
Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3242, doi. 10.1002/ajmg.a.62955
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- Publication type:
- Article