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1.
Fetal congenital gastrointestinal obstruction: prenatal diagnosis of chromosome microarray analysis and pregnancy outcomes.
BMC Pregnancy Childbirth
; 23(1): 503, 2023 Jul 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37422671
2.
[Analysis of a Chinese pedigree affected with van der Woude syndrome due to variant of IRF6 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1517-1520, 2023 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37994134
3.
[Value of chromosomal microarray analysis for the diagnosis of fetuses with anomalies of central nervous system].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(2): 181-185, 2023 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36709937
4.
[Follow-up of fetuses with de novo copy number variations of unknown significance detected by chromosomal microarray analysis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(4): 442-445, 2023 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36972939
5.
[Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(6): 611-615, 2022 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35773765
6.
[Analysis of PDK1 gene variants and prenatal diagnosis for eight pedigrees affected with autosomal dominant polycystic kidney disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(9): 932-937, 2022 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36082560
7.
[Analysis of PHEX gene variant and prenatal diagnosis for a Chinese pedigree affected with X-linked hypophosphatemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(11): 1136-1139, 2021 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34729760
8.
[Analysis of PHEX gene variant and prenatal diagnosis for a Chinese pedigree affected with X-linked hypophosphatemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(11): 1136-1139, 2021 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34839522
9.
[Analysis of related phenotype of prenatal cases with copy number variations in various region of 22q11.2].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(11): 1055-1059, 2021 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34729742
10.
[Mutation analysis for a methylmalonic acidemia pedigree without proband by high-throughput sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(3): 397-399, 2018 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-29896740
11.
Cell-free DNA test for pathogenic copy number variations: A retrospective study.
Taiwan J Obstet Gynecol
; 60(6): 1066-1071, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34794739
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