A New Variant in the GATA6 Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes.
- Published in:
- Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 282, doi. 10.1159/000536621
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- Publication type:
- Article
Works matching AU Ruta, Rosario
Results: 8
1
2
A rare cause of transient neonatal diabetes mellitus: Spontaneous HNF1B splice variant.
- Published in:
- Diabetic Medicine, 2024, v. 41, n. 2, p. 1, doi. 10.1111/dme.15202
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- Publication type:
- Article
3
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-72
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- Publication type:
- Article
4
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
5
Correction to: Monogenic diabetes clinic (MDC): 3‑year experience.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
6
Monogenic diabetes clinic (MDC): 3-year experience.
- Published in:
- Acta Diabetologica, 2023, v. 60, n. 1, p. 61, doi. 10.1007/s00592-022-01972-2
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- Publication type:
- Article
7
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. 2349, doi. 10.1210/clinem/dgae095
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- Publication type:
- Article
8
Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 339, doi. 10.1159/000536574
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- Publication type:
- Article