Found: 18
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European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
- Published in:
- Advances in Therapy, 2024, v. 41, n. 7, p. 2545, doi. 10.1007/s12325-024-02880-3
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- Publication type:
- Article
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
- Published in:
- Advances in Therapy, 2024, v. 41, n. 1, p. 198, doi. 10.1007/s12325-023-02705-9
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- Publication type:
- Article
Fibrodysplasia ossificans progressiva: when a double skeleton is present.
- Published in:
- 2023
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- Publication type:
- Case Study
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
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- Publication type:
- Article
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1429, doi. 10.1093/hmg/ddac289
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- Publication type:
- Article
Albright's hereditary osteodystrophy: an entity to recognize.
- Published in:
- 2022
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- Publication type:
- Case Study
Optimising care and follow-up of adults with achondroplasia.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02479-3
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- Publication type:
- Article
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
- Published in:
- 2022
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- Publication type:
- journal article
Congenital cutaneous ossification.
- Published in:
- Journal of Paediatrics & Child Health, 2022, v. 58, n. 7, p. 1262, doi. 10.1111/jpc.15814
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- Publication type:
- Article
Cutis laxa and excessive bone growth due to de novo mutations in <italic>PTDSS1</italic>.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 668, doi. 10.1002/ajmg.a.38604
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- Publication type:
- Article
Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1731, doi. 10.1002/humu.23321
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- Publication type:
- Article
Phenotype and genotype in Nicolaides-Baraitser syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 302, doi. 10.1002/ajmg.c.31409
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- Publication type:
- Article
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 10, doi. 10.1002/ajmg.a.36235
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- Publication type:
- Article
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 1, p. 70, doi. 10.1038/ng.2829
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- Publication type:
- Article
Intellectual disability, unusual facial morphology and hand anomalies in sibs.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2401, doi. 10.1002/ajmg.a.36124
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- Publication type:
- Article
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 445, doi. 10.1038/ng.1105
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- Publication type:
- Article
Expanding the skeletal phenotype of Loeys-Dietz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1178, doi. 10.1002/ajmg.a.33813
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- Publication type:
- Article
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 4, p. 1, doi. 10.1371/journal.pgen.1002050
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- Publication type:
- Article