Detalhe da pesquisa
1.
CSMD3 Deficiency Leads to Motor Impairments and Autism-Like Behaviors via Dysfunction of Cerebellar Purkinje Cells in Mice.
J Neurosci
; 43(21): 3949-3969, 2023 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37037606
2.
CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome.
Ann Neurol
; 94(6): 1136-1154, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597256
3.
Discovery and directed evolution of C-C bond formation enzymes for the biosynthesis of ß-hydroxy-α-amino acids and derivatives.
Crit Rev Biotechnol
; : 1-20, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38566472
4.
De novo CLPTM1 variants with reduced GABAA R current response in patients with epilepsy.
Epilepsia
; 64(11): 2968-2981, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577761
5.
In Vitro Effects of Acitretin on Human Neuronal SH-SY5Y Cells.
Neurochem Res
; 48(1): 72-81, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35987975
6.
Asp-containing actinomycin and tetracyclic chromophoric analogues from the Streptomyces sp. strain S22.
Org Biomol Chem
; 21(8): 1737-1743, 2023 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36723156
7.
A Highly Stable Organic Luminescent Diradical.
Angew Chem Int Ed Engl
; 62(15): e202300772, 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36781392
8.
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
Hum Mutat
; 43(5): 568-581, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35143101
9.
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
Am J Hum Genet
; 105(5): 996-1004, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587869
10.
Three-Photon AIE Pt(II) Complexes as Cysteine-Targeting Theranostic Agents for Tumor Imaging and Chemotherapy.
Anal Chem
; 94(42): 14769-14777, 2022 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36219068
11.
Secretomics Alterations and Astrocyte Dysfunction in Human iPSC of Leukoencephalopathy with Vanishing White Matter.
Neurochem Res
; 47(12): 3747-3760, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36198922
12.
Neuroblastoma SH-SY5Y Cell Differentiation to Mature Neuron by AM580 Treatment.
Neurochem Res
; 47(12): 3723-3732, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066699
13.
The role of WSC domain-containing protein encoding gene AOL_s00043g401 in the growth and nematode trapping of Arthrobotrys oligospora.
Arch Microbiol
; 204(8): 500, 2022 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851419
14.
[Clinical and genetic analysis of three children with 22q13 deletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(7): 680-684, 2022 Jul 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-35810420
15.
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Am J Hum Genet
; 103(3): 448-455, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30122539
16.
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
J Hum Genet
; 66(8): 761-768, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597727
17.
Maternal Overweight and Obesity during Pregnancy Are Associated with Neonatal, but Not Maternal, Hepcidin Concentrations.
J Nutr
; 151(8): 2296-2304, 2021 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33979838
18.
Biochemical and clinical predictors in pregnant women with antiphospholipid syndrome and systemic lupus erythematosus: comprehensive update.
Arch Gynecol Obstet
; 304(5): 1153-1160, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390384
19.
Purification and antioxidant and anti-Inflammatory activity of extracellular polysaccharopeptide from sanghuang mushroom, Sanghuangporus lonicericola.
J Sci Food Agric
; 101(3): 1009-1020, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32767366
20.
A novel fungal beta-propeller phytase from nematophagous Arthrobotrys oligospora: characterization and potential application in phosphorus and mineral release for feed processing.
Microb Cell Fact
; 19(1): 84, 2020 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32252770