Detalles de la búsqueda
1.
[Genetic analysis of a case with Al Kaissi syndrome and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 193-198, 2024 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-38311558
2.
[Prenatal diagnosis and pregnancy outcome of fetuses with rare autosomal trisomies indicated by non-invasive prenatal testing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(5): 513-518, 2023 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37102281
3.
[Analysis of a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1451-1454, 2023 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37994122
4.
[Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(10): 1236-1240, 2023 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37730223
5.
A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?
J Transl Med
; 20(1): 269, 2022 06 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35706031
6.
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.
Neurol Sci
; 43(7): 4439-4451, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-35217970
7.
[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(10): 1085-1088, 2022 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36184088
8.
[Clinical characteristics and genetic analysis of a child with autosomal recessive polycystic kidney disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(10): 1103-1106, 2022 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36184092
9.
[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(7): 694-697, 2022 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35810423
10.
[Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with mucopolysaccharidosis type II due to deletion of exon 2 of IDS gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(8): 864-867, 2022 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35929937
11.
[Genetic analysis of a case with Dubin-Johnson syndrome due to two novel variants of ABCC2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(9): 974-978, 2022 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36082568
12.
[Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(9): 988-991, 2022 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36082571
13.
[Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(11): 1257-1261, 2022 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36317214
14.
[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(10): 1120-1123, 2022 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36184096
15.
[The value of re-sampling for patients who had failed non-invasive prenatal testing due to low cell-free fetal DNA fraction].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(2): 135-138, 2022 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35076906
16.
The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes.
Prenat Diagn
; 41(10): 1332-1342, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34181751
17.
[Analysis of a case with heterozygous 14q12 deletion and FOXG1 gene-related disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(4): 366-368, 2021 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33834467
18.
[Analysis of the effect of expanded non-invasive prenatal testing in prenatal screening population during pregnancy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(11): 1041-1044, 2021 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34729739
19.
[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Meckel-Gruber syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(12): 1204-1207, 2021 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34839507
20.
[Is it necessary to choose NIPT-plus for pregnant women who opt for non-invasive prenatal testing? A study of 50 cases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(9): 895-899, 2021 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34487540