Found: 4
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Bardet‐Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome.
- Published in:
- Pediatric Obesity, 2021, v. 16, n. 2, p. 1, doi. 10.1111/ijpo.12703
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- Article
Kidney failure in Bardet–Biedl syndrome.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 4, p. 429, doi. 10.1111/cge.14119
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- Publication type:
- Article
previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report.
- Published in:
- European Heart Journal Case Reports, 2022, v. 6, n. 3, p. 1, doi. 10.1093/ehjcr/ytac063
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- Publication type:
- Article
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2066, doi. 10.1002/ajmg.a.36019
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- Publication type:
- Article