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1.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37195288
2.
Future Frontiers: Exploration of practices, challenges, and educational needs of genetic counselors in emerging subspecialties.
J Genet Couns
; 32(6): 1238-1248, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37975258
3.
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Genet Med
; 23(10): 1912-1921, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34113010
4.
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Am J Hum Genet
; 100(1): 117-127, 2017 Jan 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28017373
5.
Factors associated with parental knowledge of neurofibromatosis type 1 (NF1): Parental affected status and genetic counseling.
J Genet Couns
; 29(6): 1151-1158, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32196829
6.
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Am J Med Genet A
; 176(11): 2259-2275, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30194818
7.
Impact of patient education videos on genetic counseling outcomes after exome sequencing.
Patient Educ Couns
; 103(1): 127-135, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31521424
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