Detalhe da pesquisa
1.
Axisymmetric membranes with edges under external force: buckling, minimal surfaces, and tethers.
Soft Matter
; 17(31): 7268-7286, 2021 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34319333
2.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
3.
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.
Am J Med Genet A
; 182(2): 279-288, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31755649
4.
Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease.
Nat Commun
; 15(1): 3698, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693102
5.
NLRP3 Inflammasome Contributes to Host Defense Against Talaromyces marneffei Infection.
Front Immunol
; 12: 760095, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34912336
6.
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.
Circ Genom Precis Med
; 13(6): e003000, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33196317
7.
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Mol Genet Genomic Med
; 8(5): e1205, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154989
8.
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Lancet Reg Health West Pac
; 1: 100001, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327338
9.
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.
Epilepsia Open
; 4(1): 63-72, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868116
10.
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
BMC Med Genomics
; 11(1): 93, 2018 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30359267
11.
Editorial: Genetics and mechanism of ciliopathies.
Front Genet
; 13: 1067168, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36386820
12.
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Mol Autism
; 8: 66, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29296277