Detalles de la búsqueda
1.
Cypermethrin and/or sulfamethoxazole exposure effect on apoptosis and endoplasmic reticulum of grass carp cardiomyocyte.
Ecotoxicol Environ Saf
; 252: 114594, 2023 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36753969
2.
[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
3.
[Analysis of a child with autosomal dominant mental retardation type 40 due to variant of CHAMP1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(1): 47-52, 2023 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36585000
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.
Whole-exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees.
Am J Med Genet A
; 188(4): 1214-1225, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35014173
6.
A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.
BMC Nephrol
; 23(1): 227, 2022 06 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35761198
7.
Effects of Exosomes Derived from Adipose-Derived Mesenchymal Stem Cells on Pyroptosis and Regeneration of Injured Liver.
Int J Mol Sci
; 23(20)2022 Oct 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36292924
8.
[Analysis of LRP5 gene variants in a Chinese pedigree affected with Osteoporosis-pseudoglioma syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(2): 185-188, 2022 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35076916
9.
[Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(4): 392-396, 2022 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35446973
10.
[Prenatal diagnosis and genetic counselling for a pedigree carrying a large fragment deletion of 13q].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(3): 334-337, 2022 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35315048
11.
[The phenotypes and genotypes of four patients with Dubin-Johnson syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(10): 1065-1069, 2022 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36184084
12.
[CNV-seq analysis of copy number variations in 217 fetuses with nasal bone dysplasia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(10): 1076-1079, 2022 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36184086
13.
[Diagnosis of a patient with adjacent gene deletion syndrome with DMD complete deletion type of Duchenne muscular dystrophy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(9): 869-872, 2021 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34487533
14.
[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
15.
[Prenatal cytogenetic and molecular genetic analysis of a fetus with confined placenta mosaicism for trisomy 16].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(8): 771-774, 2021 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34365622
16.
[Analysis of COL1A1 gene variants in five Chinese pedigrees affected with osteogenesis imperfecta].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(2): 123-126, 2020 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32034735
17.
[Genetic analysis of five pedigrees affected with multiple osteochondromas].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 717-720, 2020 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32619249
18.
[Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(5): 559-562, 2020 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32335886
19.
[Clinical phenotype and genetic analysis of three pedigrees with 17q12 microdeletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(4): 397-400, 2020 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32219821
20.
Hydrogen-rich saline protects against hepatic injury induced by ischemia-reperfusion and laparoscopic hepatectomy in swine.
Hepatobiliary Pancreat Dis Int
; 18(1): 48-61, 2019 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-30573299