Found: 7
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Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1675
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- Publication type:
- Article
Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Radiological characteristics of skeletal growth in neonates and infants with achondroplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63525
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- Publication type:
- Article
A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton‐Merten syndrome and Aicardi‐Goutières syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 249, doi. 10.1002/ajmg.a.62478
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- Publication type:
- Article
Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods.
- Published in:
- Clinical Pediatric Endocrinology, 2023, v. 32, n. 4, p. 221, doi. 10.1297/cpe.2023-0035
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- Publication type:
- Article
Transient central diabetes insipidus after cranioplasty for craniosynostosis in an infant with septo-optic dysplasia.
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 1, p. 50, doi. 10.1297/cpe.2021-0036
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- Publication type:
- Article
Novel AVPR2 variant in a male infant with nephrogenic diabetes insipidus who showed delayed head control.
- Published in:
- Clinical Pediatric Endocrinology, 2019, v. 28, n. 4, p. 155, doi. 10.1297/cpe.28.155
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- Publication type:
- Article