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1.
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
Hum Mol Genet
; 29(9): 1537-1546, 2020 06 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32338762
2.
Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping.
J Assist Reprod Genet
; 37(3): 509-516, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-32026199
3.
[Xq;Yq translocation in a patient with premature ovarian insufficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(9): 942-945, 2020 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32820504
4.
[Non-invasive prenatal testing and genetic analysis of a fetus with partial trisomy 21].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(10): 1079-1083, 2020 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32924105
5.
[Genetic analysis of a pedigree with MECP duplication syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(10): 1146-1149, 2020 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32924122
6.
[Identification of a de novo interstitial 21q22.12q22.13 deletion in a patient with intellectual disability].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(7): 704-707, 2019 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31302916
7.
[Prenatal diagnosis of monochorionic-diamniotic twins discordant for 45,X/46,XX mosaicism].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(3): 260-262, 2019 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30835360
8.
[Genetic analysis of a child with mental retardation and hypospadia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(12): 1199-1202, 2019 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31813147
9.
[Genetic screening and prenatal diagnosis for high risk families of Fragile X syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(5): 653-656, 2018 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30298488
10.
Predictable weathering of puparial hydrocarbons of necrophagous flies for determining the postmortem interval: a field experiment using Chrysomya rufifacies.
Int J Legal Med
; 131(3): 885-894, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28058571
11.
[Genetic analysis for 2 females carrying idic(Y)(p) and with sex development disorders].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(3): 335-9, 2016 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-27264816
12.
[Application of next-generation DNA sequencing for prenatal testing of fetal chromosomal aneuploidies].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 32(4): 533-7, 2015 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-26252102
13.
The first case of a non-infertile female patient with Pitt-Hopkins syndrome.
Am J Med Genet A
; 179(11): 2311-2314, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31464085
14.
[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type â ¡].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 31(4): 424-7, 2014 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-25119903
15.
[Analysis of four fetuses with de novo chromosomal rearrangments using single nucleotide polymorphism microarray chips].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(6): 658-61, 2012 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-23225044
16.
Identification of rare thalassemia variants using third-generation sequencing.
Front Genet
; 13: 1076035, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36685902
17.
Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
Mol Genet Genomic Med
; 9(3): e1604, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33471964
18.
Clinical significance of S100B protein in pregnant woman with early- onset severe preeclampsia.
Ginekol Pol
; 2021 Jun 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34105751
19.
Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.
Mol Genet Genomic Med
; 9(5): e1632, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33834621
20.
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.
Front Genet
; 12: 611226, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34276756