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Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2920, doi. 10.1002/ajmg.a.62906
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- Article
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 14, p. 4078, doi. 10.3390/jcm11144078
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- Article
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
- Published in:
- 2022
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- Publication type:
- journal article
Familial Mediterranean fever: breaking all the (genetic) rules.
- Published in:
- Rheumatology, 2019, v. 58, n. 3, p. 463, doi. 10.1093/rheumatology/key328
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- Publication type:
- Article
Molecular tools for the genomic assessment of oocyte's reproductive competence.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 4, p. 847, doi. 10.1007/s10815-022-02411-5
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- Publication type:
- Article
Ligneous conjunctivitis and use of human plasminogen eyedrops: The Italian experience.
- Published in:
- Haemophilia, 2023, v. 29, n. 2, p. 681, doi. 10.1111/hae.14745
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- Publication type:
- Article
Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report.
- Published in:
- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01503-x
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- Publication type:
- Article