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1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Article
in English
| MEDLINE | ID: mdl-35917817
2.
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Am J Hum Genet
; 106(6): 893-904, 2020 06 04.
Article
in English
| MEDLINE | ID: mdl-32386558
3.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Brain
; 144(5): 1451-1466, 2021 06 22.
Article
in English
| MEDLINE | ID: mdl-33855352
4.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clin Genet
; 99(2): 318-324, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33169370
5.
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
Hum Genomics
; 12(1): 11, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-29490693
6.
Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models.
Curr Opin Genet Dev
; 68: 79-87, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33812298
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