Detalhe da pesquisa
1.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Genet Med
; 25(2): 100323, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401616
2.
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Clin Genet
; 99(5): 694-703, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495992
3.
NR2F1 mediated down-regulation of osteoblast differentiation was rescued by bone morphogenetic protein-2 (BMP-2) in human MSC.
Differentiation
; 104: 36-41, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30445268
4.
Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia.
J Clin Med
; 13(5)2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38592052
5.
Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.
J Nephrol
; 33(4): 763-769, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31912435
6.
An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant.
Eur J Med Genet
; 62(2): 124-128, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29960047
7.
Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients.
Ophthalmic Genet
; 40(6): 507-513, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833436
8.
Silicon carbide whisker-mediated embryogenic callus transformation of cotton (Gossypium hirsutum L.) and regeneration of salt tolerant plants.
Mol Biotechnol
; 40(2): 161-9, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18663608
9.
Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.
Congenit Anom (Kyoto)
; 58(1): 10-15, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28419563
10.
Whole exome sequencing identification of a novel insertion mutation in the phospholipase C ε1 gene in a family with steroid resistant inherited nephrotic syndrome.
Mol Med Rep
; 18(6): 5095-5100, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30280192
11.
TGFß1-Induced Differentiation of Human Bone Marrow-Derived MSCs Is Mediated by Changes to the Actin Cytoskeleton.
Stem Cells Int
; 2018: 6913594, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29535777
12.
Characterization of Cellular and Molecular Heterogeneity of Bone Marrow Stromal Cells.
Stem Cells Int
; 2016: 9378081, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27610142
13.
High frequency and poor prognosis of late childhood BCR-ABL-positive and MLL-AF4-positive ALL define the need for advanced molecular diagnostics and improved therapeutic strategies in pediatric B-ALL in Pakistan.
Mol Diagn Ther
; 19(5): 277-87, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26266519