Detalles de la búsqueda
1.
Curation of causal interactions mediated by genes associated with autism accelerates the understanding of gene-phenotype relationships underlying neurodevelopmental disorders.
Mol Psychiatry
; 29(1): 186-196, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38102483
2.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet
; 106(5): 596-610, 2020 05 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32243864
3.
From enhanceropathies to the epigenetic manifold underlying human cognition.
Hum Mol Genet
; 28(R2): R226-R234, 2019 11 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-31411680
4.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28575647
5.
Correction: Curation of causal interactions mediated by genes associated with autism accelerates the understanding of gene-phenotype relationships underlying neurodevelopmental disorders.
Mol Psychiatry
; 29(1): 197, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38267621
6.
RNAontheBENCH: computational and empirical resources for benchmarking RNAseq quantification and differential expression methods.
Nucleic Acids Res
; 44(11): 5054-67, 2016 06 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-27190234
7.
Theoretical insights into [NiFe]-hydrogenases oxidation resulting in a slowly reactivating inactive state.
J Biol Inorg Chem
; 22(1): 137-151, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27873068
8.
SPILLO-PBSS: detecting hidden binding sites within protein 3D-structures through a flexible structure-based approach.
J Comput Chem
; 35(27): 2005-17, 2014 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25179993
9.
YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.
bioRxiv
; 2024 Feb 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38405909
10.
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
Clin Epigenetics
; 15(1): 45, 2023 03 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36945042
11.
C-Terminal acidic domain of ubiquitin-conjugating enzymes: a multi-functional conserved intrinsically disordered domain in family 3 of E2 enzymes.
J Struct Biol
; 178(3): 245-59, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22507829
12.
An acidic loop and cognate phosphorylation sites define a molecular switch that modulates ubiquitin charging activity in Cdc34-like enzymes.
PLoS Comput Biol
; 7(5): e1002056, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21637798
13.
Temporal mapping of derived high-frequency gene variants supports the mosaic nature of the evolution of Homo sapiens.
Sci Rep
; 12(1): 9937, 2022 06 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35705575
14.
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.
Sci Adv
; 5(12): eaaw7908, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31840056
15.
The guanine nucleotide exchange factor Arhgef7/ßPix promotes axon formation upstream of TC10.
Sci Rep
; 8(1): 8811, 2018 06 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29891904
Resultados
1 -
15
de 15
1
Próxima >
>>