Psychological assessment in XLMR: a proposal for setting international standards.
Fisch, G S.
; 11(2): 85-101, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-10893660
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
A 'cure' for Down syndrome: what do parents want?
Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Improving the Health and Well-Being of Adults With Conditions of a Genetic Origin: Views from Professionals, Syndrome Support Groups and Parents.
3p26.3 terminal deletions: a challenge for prenatal genetic counseling.
Epigenetic Etiology of Intellectual Disability.
Genetic studies in intellectual disability and related disorders.
Discontinuity in the genetic and environmental causes of the intellectual disability spectrum.