Detalhe da pesquisa
1.
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Blood
; 141(6): 645-658, 2023 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36223592
2.
Current advances in human-induced pluripotent stem cell-based models and therapeutic approaches for congenital heart disease.
Mol Cell Biochem
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38635080
3.
Mammalian VPS45 orchestrates trafficking through the endosomal system.
Blood
; 137(14): 1932-1944, 2021 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512427
4.
Rehabilitation of long-term mandibular defects by whole-process digital fibula flap combining with implants: A case report.
J Prosthodont
; 32(3): 187-195, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36542449
5.
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Br J Dermatol
; 187(6): 948-961, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986704
6.
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Proc Natl Acad Sci U S A
; 116(3): 970-975, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591564
7.
miR-191 modulates B-cell development and targets transcription factors E2A, Foxp1, and Egr1.
Eur J Immunol
; 49(1): 121-132, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30281154
8.
A novel missense mutation of RPGR identified from retinitis pigmentosa affects splicing of the ORF15 region and causes loss of transcript heterogeneity.
Biochem Biophys Res Commun
; 531(2): 172-179, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32788070
9.
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
Mol Pain
; 14: 1744806918781140, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29770739
10.
Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
J Clin Immunol
; 38(6): 711, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30099695
11.
Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
J Clin Immunol
; 38(6): 699-710, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030704
12.
[Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type II].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(1): 34-7, 2016 Feb.
Artigo
em Zh
| MEDLINE | ID: mdl-26829730
13.
Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency.
Gastroenterology
; 156(1): 275-278, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30267714
14.
Analysis of genetic regulation and cytokine expressions of distraction osteogenesis reconstruction for cleft palate.
J Craniofac Surg
; 25(6): 2231-6, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25023060
15.
Performance of 3D printed porous polyetheretherketone composite scaffolds combined with nano-hydroxyapatite/carbon fiber in bone tissue engineering: a biological evaluation.
Front Bioeng Biotechnol
; 12: 1343294, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38333080
16.
Preparation and properties of a 3D printed nHA/PLA bone tissue engineering scaffold loaded with a ß-CD-CHX combined dECM hydrogel.
RSC Adv
; 14(14): 9848-9859, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38528932
17.
Engineered CBEs based on Macaca fascicularis A3A with improved properties for precise genome editing.
Cell Rep
; 43(3): 113878, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431844
18.
A Chromosomal-Level Genome of Dermatophagoides farinae, a Common Allergenic Mite Species.
Int J Genomics
; 2024: 3779688, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38716377
19.
A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family.
BMC Med Genomics
; 17(1): 46, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38303044
20.
Application of 3D printed titanium mesh and digital guide plate in the repair of mandibular defects using double-layer folded fibula combined with simultaneous implantation.
Front Bioeng Biotechnol
; 12: 1350227, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456007