Found: 5
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A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia.
- Published in:
- Congenital Anomalies, 2024, v. 64, n. 4, p. 177, doi. 10.1111/cga.12569
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- Publication type:
- Article
Clinical features of fetal hydrothorax associated with mucopolysaccharidosis‐VII.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2023, v. 49, n. 10, p. 2538, doi. 10.1111/jog.15744
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- Publication type:
- Article
A novel FLNA variant in a fetus with skeletal dysplasia.
- Published in:
- Human Genome Variation, 2022, p. 1, doi. 10.1038/s41439-022-00224-7
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- Publication type:
- Article
Collection of 2429 constrained headshots of 277 volunteers for deep learning.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-07560-2
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- Publication type:
- Article
Confined placental mosaicism of trisomy 6 detected through genome‐wide NIPT was associated with placental abruption.
- Published in:
- 2021
- By:
- Publication type:
- Case Study