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1.
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Genet Med
; 23(8): 1465-1473, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33833410
2.
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Hum Mol Genet
; 25(16): 3588-3599, 2016 08 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27378690
3.
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
PLoS Genet
; 11(2): e1004855, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25647241
4.
Nemo-like kinase 1 (Nlk1) and paraxial protocadherin (PAPC) cooperatively control Xenopus gastrulation through regulation of Wnt/planar cell polarity (PCP) signaling.
Differentiation
; 93: 27-38, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-27875771
5.
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.
Dis Model Mech
; 16(2)2023 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36637363
6.
Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.
J Lipid Res
; 52(4): 813-25, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21245028
7.
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
Front Physiol
; 10: 134, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30858804
8.
Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.
PLoS One
; 9(3): e90894, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24625750
9.
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
Orphanet J Rare Dis
; 8: 35, 2013 Feb 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-23433426
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