Found: 9
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The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.
- Published in:
- Children, 2024, v. 11, n. 5, p. 578, doi. 10.3390/children11050578
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- Publication type:
- Article
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1275, doi. 10.3390/genes13071275
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- Publication type:
- Article
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG".
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 382, doi. 10.1002/ajmg.a.62511
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- Publication type:
- Article
Copy Number Variation Analysis Increases the Number of Candidate Loci Associated with Pediatric Obesity.
- Published in:
- Hormone Research in Paediatrics, 2021, v. 94, n. 7/8, p. 251, doi. 10.1159/000519299
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- Publication type:
- Article
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).
- Published in:
- 2020
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- Publication type:
- journal article
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 187, doi. 10.1002/ajmg.a.38538
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- Publication type:
- Article
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.
- Published in:
- Rheumatology, 2010, v. 49, n. 6, p. 1056, doi. 10.1093/rheumatology/keq048
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- Publication type:
- Article
Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers.
- Published in:
- Human Mutation, 1997, v. 10, n. 6, p. 458, doi. 10.1002/(SICI)1098-1004(1997)10:6<458::AID-HUMU7>3.0.CO;2-9
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- Publication type:
- Article
Increased incidence of preeclampsia in pregnancies complicated by fetal malformation.
- Published in:
- 1997
- By:
- Publication type:
- journal article