Detalhe da pesquisa
1.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Am J Hum Genet
; 110(8): 1377-1393, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451268
2.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
; 147(4): 1197-1205, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141063
3.
A Deep Dive into Cu2 ZnSnS4 (CZTS) Solar Cells: A Review of Exploring Roadblocks, Breakthroughs, and Shaping the Future.
Small
; : e2310584, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38470191
4.
ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity.
Mol Psychiatry
; 28(3): 1219-1231, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36604604
5.
Balancing agricultural production and environmental sustainability: Based on Economic Analysis From North China Plain.
Environ Res
; 252(Pt 3): 118784, 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38555984
6.
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder.
J Med Genet
; 60(3): 223-232, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35595279
7.
A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.
Neurogenetics
; 24(1): 55-60, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190665
8.
Rare genetic disorders: Beyond whole-exome sequencing.
J Gene Med
; 25(10): e3503, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987553
9.
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.
J Gene Med
; 25(10): e3513, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37178061
10.
Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
J Gene Med
; 25(10): e3522, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119015
11.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Genet Med
; 25(11): 100950, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551667
12.
In vitro aging of stallion spermatozoa during prolonged storage at 5°C.
Cytometry A
; 103(6): 479-491, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36519783
13.
A novel de novo variant in the PHF21A causes craniofacial abnormalities, intellectual disability and skeletal manifestations.
Clin Genet
; 104(1): 142-144, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843358
14.
Genetic overview of postaxial polydactyly: Updated classification.
Clin Genet
; 103(1): 3-15, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071556
15.
A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.
Clin Genet
; 103(2): 219-225, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36155908
16.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119330
17.
Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient.
Mol Biol Rep
; 50(9): 7935-7939, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470964
18.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Brain
; 145(2): 596-606, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515763
19.
Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.
Pediatr Nephrol
; 38(6): 1801-1810, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36409364
20.
Assessment of attitudes towards the use of preimplantation genetic diagnosis in a single center in Riyadh, Saudi Arabia.
J Genet Couns
; 32(5): 1032-1039, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005789