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1.
A novel gain-of-function PIP4K2A mutation elevates the expression of ß-globin and aggravates the severity of α-thalassemia.
Br J Haematol
; 202(5): 1018-1023, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37423903
2.
A novel ADGRG2 truncating variant associated with X-linked obstructive azoospermia in a large Chinese pedigree.
J Assist Reprod Genet
; 40(7): 1747-1754, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37273165
3.
Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases.
Sci Rep
; 14(1): 2304, 2024 01 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38280905
4.
The frequency of HKαα allele in silent deletional α-thalassemia carriers in the Yulin region of southern China using the third-generation sequencing.
Gene
; 875: 147505, 2023 Jul 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-37217151
5.
A novel rearrangement of the α-globin gene cluster containing both the -α3.7 and ααααanti4.2 crossover junctions in a Chinese family.
Clin Chim Acta
; 535: 7-12, 2022 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35944700
6.
Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder.
Mol Cytogenet
; 13: 21, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32536972
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