Detalles de la búsqueda
1.
Pedigree Analysis of Nonhomologous Sequence Recombination of HBA1 and HBA2 Genes.
Hemoglobin
; 44(5): 329-333, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32811243
2.
[Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality].
Zhongguo Dang Dai Er Ke Za Zhi
; 20(1): 52-55, 2018 Jan.
Artículo
en Zh
| MEDLINE | ID: mdl-29335083
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.
[Genetic diagnosis of 10 neonates with primary carnitine deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 19(11): 1150-1154, 2017 Nov.
Artículo
en Zh
| MEDLINE | ID: mdl-29132460
5.
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(10): 1019-1025, 2016 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-27751224
6.
[CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(12): 1282-1285, 2016 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-27974123
7.
[Pancytopenia and metabolic decompensation in a neonate].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(11): 1150-1153, 2016 Nov.
Artículo
en Zh
| MEDLINE | ID: mdl-27817783
8.
[Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(11): 1136-1140, 2016 Nov.
Artículo
en Zh
| MEDLINE | ID: mdl-27817780
9.
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
10.
[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 32(2): 520-524, 2024 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-38660861
11.
Evidence of recent natural selection on the Southeast Asian deletion (--(SEA)) causing α-thalassemia in South China.
BMC Evol Biol
; 13: 63, 2013 Mar 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-23497175
12.
[Methodological Evaluation of Microarray in the Detection of α-Thalassemia].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 29(6): 1907-1910, 2021 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-34893132
13.
[Application of DNA Microarray in Genetic Mutation Detection in Patients with Thalassemia].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 29(5): 1561-1565, 2021 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-34627440
14.
Development and evaluation of a reverse dot blot assay for the simultaneous detection of six common Chinese G6PD mutations and one polymorphism.
Blood Cells Mol Dis
; 41(1): 17-21, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-18329300
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.
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.
Eur J Hum Genet
; 18(9): 978-84, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20442745
Resultados
1 -
16
de 16
1
Próxima >
>>