Recurrent Xp22.31-Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families. Read more about Recurrent Xp22.31-Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. Read more about The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up. Read more about 45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study. Read more about A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.
Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma. Read more about Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys). Read more about Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. Read more about Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. Read more about A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
The sixth international RASopathies symposium: Precision medicine-From promise to practice. Read more about The sixth international RASopathies symposium: Precision medicine-From promise to practice.
The Society for Craniofacial Genetics and Developmental Biology 41st Annual Meeting. Read more about The Society for Craniofacial Genetics and Developmental Biology 41st Annual Meeting.
