Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement. Read more about Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. Read more about Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Expansion of phenotype and genotypic data in CRB2-related syndrome. Read more about Expansion of phenotype and genotypic data in CRB2-related syndrome.
Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration. Read more about Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration.
Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population. Read more about Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population.
A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories. Read more about A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.
Evolutionary genetics: the human brain -- adaptation at many levels. Read more about Evolutionary genetics: the human brain -- adaptation at many levels.
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Read more about Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene. Read more about Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene.
