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1.
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
2.
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
3.
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
4.
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
5.
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
6.
A quantitative assay to detect α-thalassemia deletions and triplications using multiplex nested real-time quantitative polymerase chain reaction.
Anal Biochem
; 427(2): 144-50, 2012 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22617799
7.
[Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province].
Zhonghua Fu Chan Ke Za Zhi
; 47(2): 90-5, 2012 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-22455738
8.
Rapid, accurate detection of TMPRSS6 gene causative mutations with a high-resolution melting assay.
Blood Cells Mol Dis
; 47(3): 198-204, 2011 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21783390
9.
Rapid simultaneous genotyping of polymorphisms in ADH1B and ALDH2 using high resolution melting assay.
Clin Chem Lab Med
; 51(5): e75-7, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23001317
10.
[Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 25(1): 15-8, 2008 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-18247296
11.
[A community-based genetic screening of large-scale population and prenatal diagnosis for alpha and beta thalassemia in Zhuhai city of Guangdong province].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 25(3): 256-61, 2008 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-18543211
12.
[Rapid detection of alpha-globin gene αααanti-3.7 triplets with droplet digital PCR].
Nan Fang Yi Ke Da Xue Xue Bao
; 37(9): 1265-1269, 2017 Sep 20.
Artículo
en Zh
| MEDLINE | ID: mdl-28951374
13.
[Hemoglobin H disease with a rare α-thalassemia gene mutation (--SEA/α*92A>Gα): pedigree analysis and genetic diagnosis].
Nan Fang Yi Ke Da Xue Xue Bao
; 36(9): 1295-1298, 2016 08 20.
Artículo
en Zh
| MEDLINE | ID: mdl-27687668
14.
Rapid determination of human globin chains using reversed-phase high-performance liquid chromatography.
J Chromatogr B Analyt Technol Biomed Life Sci
; 901: 53-8, 2012 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22727753
15.
Reliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous α-thalassemia in maternal plasma.
PLoS One
; 6(9): e24779, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21980356
16.
Rapid genotyping of known mutations and polymorphisms in beta-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes.
Clin Biochem
; 41(9): 681-7, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18339318
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