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1.
A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
Mol Biol Rep
; 51(1): 371, 2024 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38411728
2.
Effects of orientation and distance of goats on blast lung injury characteristics on a plateau above 4500-meter.
Chin J Traumatol
; 26(3): 139-146, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-36344366
3.
Genetic analysis combined with 3D-printing assistant surgery in diagnosis and treatment for an X-linked hypophosphatemia patient.
J Clin Lab Anal
; 36(3): e24243, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-35106857
4.
A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.
Clin Genet
; 100(6): 773-774, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34423420
5.
Effects of Different Parameter Settings for 3D Data Smoothing and Mesh Simplification on Near Real-Time 3D Reconstruction of High Resolution Bioceramic Bone Void Filling Medical Images.
Sensors (Basel)
; 21(23)2021 Nov 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-34883959
6.
Smoking Paradox in Stroke Survivors?: Uncovering the Truth by Interpreting 2 Sets of Data.
Stroke
; 51(4): 1248-1256, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32151234
7.
Phosphorylation of Dab2 is involved in inhibited VEGF-VEGFR-2 signaling induced by downregulation of syndecan-1 in glomerular endothelial cell.
Cell Biol Int
; 44(3): 894-904, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-31868265
8.
Increased Reticulon 3 (RTN3) Leads to Obesity and Hypertriglyceridemia by Interacting With Heat Shock Protein Family A (Hsp70) Member 5 (HSPA5).
Circulation
; 138(17): 1828-1838, 2018 10 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-29716941
9.
A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathy.
Ann Hum Genet
; 83(2): 95-99, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30276801
10.
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
J Gene Med
; 21(10): e3122, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31420900
11.
Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.
Cytogenet Genome Res
; 157(3): 148-152, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30630173
12.
Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope.
J Hum Genet
; 64(3): 233-238, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30542207
13.
Early white matter injuries associated with dopamine transporter dysfunction in patients with acute CO intoxication: A diffusion kurtosis imaging and Tc-99m TRODAT-1 SPECT study.
Eur Radiol
; 29(3): 1375-1383, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30143836
14.
One-Year Risk of Recurrent Stroke and Death Associated with Vertebrobasilar Artery Stenosis and Occlusion in a Cohort of 10,515 Patients.
Cerebrovasc Dis
; 47(1-2): 40-47, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30763929
15.
A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient.
Clin Chem Lab Med
; 57(4): 532-539, 2019 03 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-30205637
16.
Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death.
J Cell Mol Med
; 22(2): 1350-1354, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29077258
17.
Microduplication of 10q26.3 in a Chinese hypertriglyceridemia patient.
Mol Cell Probes
; 37: 28-31, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29129660
18.
Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy.
Cardiol Young
; 28(12): 1410-1414, 2018 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30109841
19.
Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia.
Cardiol Young
; 28(5): 688-691, 2018 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-29402340
20.
[Influence of different cultivation measures on the content of three free carbohydrates of Codonopsis Radix].
Zhongguo Zhong Yao Za Zhi
; 42(20): 3963-3968, 2017 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-29243434