Disease: Microcephaly sparse hair mental retardation seizures
- <em>COQ8A</em> and <em>MED25</em> Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
- A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures
- A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
- A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation
- Aplastic anemia and Hoyeraal-Hreidarsson syndrome
- COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
- Nicolaides-Baraitser Syndrome
- Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and <em>SMARCA2</em> gene deletion
- Phenotype and genotype in Nicolaides-Baraitser syndrome
- Supernumeraries in Nicolaides-Baraitser Syndrome
- Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female
- Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant
- Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat