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1.
Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.
Am J Med Genet A
; 185(5): 1498-1503, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33544979
2.
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.
Int J Mol Sci
; 21(20)2020 Oct 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33086711
3.
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16â¯579 Newborns by Using a Novel Genomic Workflow.
JAMA Netw Open
; 5(1): e2141911, 2022 01 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34982160
4.
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.
Genes (Basel)
; 12(6)2021 05 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-34073864
5.
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.
Transl Psychiatry
; 10(1): 362, 2020 10 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-33116122
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