Found: 8
Select item for more details and to access through your institution.
Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 12, doi. 10.1159/000444729
- By:
- Publication type:
- Article
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 4, p. 252, doi. 10.1159/000500264
- By:
- Publication type:
- Article
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 1, p. 13, doi. 10.1159/000481777
- By:
- Publication type:
- Article
Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 896, doi. 10.1002/ajmg.c.31851
- By:
- Publication type:
- Article
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2479, doi. 10.1002/ajmg.a.34023
- By:
- Publication type:
- Article
Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0142-7
- By:
- Publication type:
- Article
The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1545, doi. 10.1002/ajmg.a.62651
- By:
- Publication type:
- Article
Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.
- Published in:
- Cytogenetic & Genome Research, 2016, v. 149, n. 4, p. 241, doi. 10.1159/000448905
- By:
- Publication type:
- Article