P12.09: Short-rib polydactyly syndrome type II: a case report.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 250, doi. 10.1002/uog.14220
- By:
- Publication type:
- Article
Works matching DE "SHORT-rib polydactyly syndrome"
Results: 6
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Short rib-polydactyly syndrome (Saldino-Noonan type) undetected by standard prenatal genetic testing.
- Published in:
- Case Reports in Perinatal Medicine, 2018, v. 7, n. 2, p. N.PAG, doi. 10.1515/crpm-2017-0027
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- Publication type:
- Article
3
Metal/polymer composite Nuss bar for minimally invasive bar removal after Pectus Excavatum treatment: FEM simulations.
- Published in:
- International Journal for Numerical Methods in Biomedical Engineering, 2014, v. 30, n. 12, p. 1530, doi. 10.1002/cnm.2682
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- Publication type:
- Article
4
Genetics Corner: A Neonatal Case of Shwachman-Diamond Syndrome with Prominent Skeletal Anomalies Diagnosed by Whole Exome Sequencing.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
5
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 2, p. 158, doi. 10.1111/cge.12947
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- Publication type:
- Article
6
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
- Published in:
- 2014
- By:
- Publication type:
- Report