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1.
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
Brain
; 146(12): 5153-5167, 2023 12 01.
Article
in English
| MEDLINE | ID: mdl-37467479
2.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Article
in English
| MEDLINE | ID: mdl-26833328
3.
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
Hum Mol Genet
; 24(6): 1584-601, 2015 Mar 15.
Article
in English
| MEDLINE | ID: mdl-25398945
4.
Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9.
Stem Cell Res
; 68: 103053, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36842376
5.
Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway.
Cell Rep
; 39(5): 110790, 2022 05 03.
Article
in English
| MEDLINE | ID: mdl-35508131
6.
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.
Cilia
; 7: 1, 2018.
Article
in English
| MEDLINE | ID: mdl-30479745
7.
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Cilia
; 5: 8, 2016.
Article
in English
| MEDLINE | ID: mdl-27069622
8.
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
Nat Cell Biol
; 18(1): 122-31, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26595381
9.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Nat Commun
; 7: 11491, 2016 05 13.
Article
in English
| MEDLINE | ID: mdl-27173435
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