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1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet
; 2024 May 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-38744284
2.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30057029
3.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33658631
4.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genet Med
; 21(9): 2043-2058, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30842647
5.
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
NPJ Genom Med
; 7(1): 45, 2022 Jul 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35906228
6.
Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort.
Swiss Med Wkly
; 149: w20092, 2019 Aug 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31422574
7.
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Eur J Hum Genet
; 26(2): 197-209, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29321670
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