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1.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35907405
2.
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Clin Genet
; 2024 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38561231
3.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-35979925
4.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Am J Med Genet B Neuropsychiatr Genet
; : e32970, 2024 Mar 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38459409
5.
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Neth Heart J
; 31(7-8): 300-307, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37488328
6.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med
; 24(5): 1096-1107, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35063350
7.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36083290
8.
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Am J Med Genet A
; 188(12): 3540-3545, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36082874
9.
Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.
Cancer Med
; 12(18): 18786-18796, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37694493
10.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Eur J Hum Genet
; 31(4): 461-468, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36747006
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