Detalhe da pesquisa
1.
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Am J Hum Genet
; 105(3): 625-630, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31303264
2.
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genet Med
; 23(1): 149-154, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873933
3.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Genet Med
; 22(8): 1338-1347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424177
4.
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Genet Med
; 21(5): 1058-1064, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245510
5.
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Genet Med
; 21(9): 2159-2160, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643220
6.
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
J Hum Genet
; 62(4): 465-471, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003643
7.
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genet Med
; 23(1): 237, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32934366
8.
Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells.
Genes (Basel)
; 14(5)2023 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239471
9.
Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions.
PLoS One
; 14(3): e0213269, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30845169