Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Overview
Zhonghua Yi Xue Yi Chuan Xue Za Zhi is a scientific journal, published since 1992 in Chinese. The journal's country of origin is China and its primary focus area is genetics.
Details
Details
Metrics
Metrics
h-index / Ranks: 12586
19
SJR / Ranks: 14114
170
CiteScore / Ranks: 14381
0.40
Recent Articles
1.
Zheng Y, Wang Y, Zou W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2025 Jan;
42(1):122-127.
PMID: 39779346
Pancreatitis is an inflammatory disease influenced by both environmental and genetic factors. It has a high prevalence and mortality rate worldwide, with no radical cure. Breakthroughs have been recently made...
2.
Hu Y, Wang W, Tu C, Lin G, Hu L, Tan Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2025 Jan;
42(1):114-121.
PMID: 39779345
Epigenetics is the link between the genome and environment, which can respond to physiological (such as age) or environmental factors (such as diet, stress, and pollution) and induce changes in...
3.
Fan L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2025 Jan;
42(1):102-113.
PMID: 39779344
Antisense oligonucleotide (ASO) was discovered several decades ago and initially used only as a research tool in the laboratory. In recent years, several ASO therapeutics have been developed for neurological...
4.
Zhou L, Xu C, Wu H, Huang S, Xu X, Tang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2025 Jan;
42(1):94-101.
PMID: 39779343
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms. Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central...
5.
Zhang L, Shi L, Li L, Yang J, Sun H, Yang J, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2025 Jan;
42(1):89-93.
PMID: 39779342
Objective: To explore the clinical features of a child with Lamb-Shaffer syndrome (LAMSHF) due to a variant of SOX5 gene. Methods: A child who was admitted to Children's Hospital Affiliated...
6.
Zhou Z, Yang S, Ning Z, Chen B, Wang M, Wu L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2025 Jan;
42(1):82-88.
PMID: 39779341
Objective: To explore the clinical manifestations and genetic characteristics of a child with Leukoencephalopathy with ataxia (LKPAT) caused by a CLCN2 gene variant. Methods: A retrospective analysis was conducted on...
7.
Han Y, Liang J, Wu J, Zhai J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2025 Jan;
42(1):74-81.
PMID: 39779340
Objective: To explore the genotype-phenotype correlation in a Charcot-Marie-Tooth type 2A2A (CMT2A2A) pedigree and to provide genetic counseling for its subsequent pregnancies. Methods: A Chinese pedigree presenting with "lower limb...
8.
Wu Q, Chen S, Liu L, Wen X, Li J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2025 Jan;
42(1):69-73.
PMID: 39779339
Objective: To investigate the clinical features and genetic variants associated with Multiple mitochondrial dysfunction syndrome (MMDS) type 3 in two children. Methods: Two children diagnosed with MMDS type 3 at...
9.
Li M, Yu X, Yang L, Wang X, Wei B
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2025 Jan;
42(1):64-68.
PMID: 39779338
Objective: To explore the clinical phenotype, pregnancy outcome and follow-up of fetuses with 15q11.2BP1-BP2 microdeletions in order to provide a basis for prenatal and reproductive consultation. Methods: From March 2019...
10.
Li S, Yu Z, Zheng X, Quan B, Liu Y, Mei S, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2025 Jan;
42(1):56-63.
PMID: 39779337
Objective: To explore the clinical features and genetic characteristics of three patients with Infantile liver failure syndrome type 2 (ILFS2). Methods: Three children who were diagnosed with ILFS2 at the...