Detalles de la búsqueda
1.
Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI-TOF-MS strategy for multi-variants analysis and its application in simultaneous detection of α-/ß-thalassemia mutations.
Hum Genet
; 142(3): 445-456, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36658365
2.
Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy Variants.
Clin Chem
; 69(9): 1062-1071, 2023 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37311260
3.
Size-resolved counting of circulating tumor cells on pinched flow-based microfluidic cytometry.
Electrophoresis
; 44(1-2): 82-88, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36031791
4.
Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α0-thalassemia by targeted next-generation sequencing.
Mol Genet Genomics
; 295(2): 505-514, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-31897801
5.
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Brain
; 142(8): 2215-2229, 2019 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31199454
6.
Characterization of a Novel 71.8 kb α0-Thalassemia Deletion and Subsequent Summary of a Practical Procedure for Thalassemia Molecular Diagnosis.
Hemoglobin
; 44(4): 259-263, 2020 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32646243
7.
A microchip device to enhance free flow electrophoresis using controllable pinched sample injections.
Electrophoresis
; 40(16-17): 2165-2171, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30861170
8.
[Establishment of a system for rapid detection of JAK2 V617F mutation in myeloproliferative diseases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(10): 980-984, 2019 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31598940
9.
Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and ß-thalassemia genotyping.
J Hum Genet
; 63(4): 407-416, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-29440707
10.
[Genetic and phenotypic analysis of a rare case with homozygous Chinese Gγ (Aγδß)0-thal deletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(4): 553-556, 2018 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30098255
11.
[Non-invasive prenatal diagnosis for beta-thalassemia by detecting paternal CD41-42 mutation in cell-free DNA derived from maternal plasma with droplet digital PCR].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(6): 787-790, 2018 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30512146
12.
Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy.
Clin Chem Lab Med
; 55(3): 358-367, 2017 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27754957
13.
A splicing mutation in VPS4B causes dentin dysplasia I.
J Med Genet
; 53(9): 624-33, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27247351
14.
α+-Thalassemia Caused by an 811 bp Deletion in Individuals from Nanning, Guangxi: A Report of Two Cases.
Hemoglobin
; 41(3): 185-188, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28840763
15.
Hb H Disease Caused by Multiple Mutations in the Polyadenylation Signal Site and - -SEA/αα.
Hemoglobin
; 41(3): 189-192, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28950779
16.
Recent Progress in Fast Sample Preparation Techniques.
Anal Chem
; 92(1): 34-48, 2020 01 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31769653
17.
Development of a capillary zone electrophoresis method for rapid determination of human globin chains in α and ß-thalassemia subjects.
Blood Cells Mol Dis
; 55(1): 62-7, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25976469
18.
Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.
BMC Musculoskelet Disord
; 16: 11, 2015 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25888055
19.
First Description of a ß-Thalassemia Mutation, -86 (C > G) (HBB: c.-136C > G), in a Chinese Family.
Hemoglobin
; 39(6): 448-50, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26291972
20.
Study protocol: a core outcome set for perioperative exercise clinical effectiveness trials for lung cancer patients.
Trials
; 25(1): 157, 2024 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38429648