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BMC Medical Genetics
|
March 27, 2020
A novel variant of IHH in a Chinese family with brachydactyly type 1
Qi Yang, Jin Wang, Xiaoxian Tian, et al.
Molecular Medicine Reports
|
April 3, 2020
Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy
Bobo Xie, Xin Fan, Yaqin Lei, et al.
Journal of Clinical Pathology
|
September 14, 2022
Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family
Sheng He, Bolian Wang, Shang Yi, et al.
RNA (New York, N.Y.)
|
December 2, 2025
MUTACLASH: Identifying functional small RNA target sites using crosslinking-induced mutations
Wei-Sheng Wu, Dong-En Lee, Chi-Jung Chung, et al.
Biorxiv : the Preprint Server for Biology
|
February 24, 2025
Analysis of crosslinking sites suggests <i>C. elegnas</i> PIWI Argonaute exhibits flexible conformations for target recognition
Wei-Sheng Wu, Dong-En Lee, Chi-Jung Chung, et al.
Frontiers in Genetics
|
March 29, 2020
PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus
Qi Yang, Rong Hua, Jiale Qian, et al.
Frontiers in Neurology
|
April 15, 2026
Clinical and genetic analysis of Chinese patients with Leigh syndrome caused by biallelic loss-of-function variants of the <i>NDUFAF6</i> gene
Qi Yang, Qiang Zhang, Xunzhao Zhou, et al.
Clinical Chemistry
|
June 23, 2026
Rapid Detection of Hemoglobinopathy Variants Using One-Step Library Preparation and Nanopore Sequencing
Xu Yang, Shang Yi, Xingyu Wei, et al.
Blood Cells, Molecules & Diseases
|
February 5, 2017
The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients
Yunli Lai, Lin Zhou, Sheng Yi, et al.
Naunyn-Schmiedeberg'S Archives of Pharmacology
|
February 13, 2025
Combining network pharmacology and RNA sequencing to reveal the mechanism of emodin for the treatment of human neuroblastoma
Hai-Mei Jiang, Shang-Yi Huang, Dan Huang, et al.
Page
of 36
Search research articles
Search
Showing results (131-140 of 357) with videos related to
Sort By:
Page
of 36
BMC Medical Genetics
|
March 27, 2020
A novel variant of IHH in a Chinese family with brachydactyly type 1
Qi Yang, Jin Wang, Xiaoxian Tian, et al.
Molecular Medicine Reports
|
April 3, 2020
Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy
Bobo Xie, Xin Fan, Yaqin Lei, et al.
Journal of Clinical Pathology
|
September 14, 2022
Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family
Sheng He, Bolian Wang, Shang Yi, et al.
RNA (New York, N.Y.)
|
December 2, 2025
MUTACLASH: Identifying functional small RNA target sites using crosslinking-induced mutations
Wei-Sheng Wu, Dong-En Lee, Chi-Jung Chung, et al.
Biorxiv : the Preprint Server for Biology
|
February 24, 2025
Analysis of crosslinking sites suggests <i>C. elegnas</i> PIWI Argonaute exhibits flexible conformations for target recognition
Wei-Sheng Wu, Dong-En Lee, Chi-Jung Chung, et al.
Frontiers in Genetics
|
March 29, 2020
PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus
Qi Yang, Rong Hua, Jiale Qian, et al.
Frontiers in Neurology
|
April 15, 2026
Clinical and genetic analysis of Chinese patients with Leigh syndrome caused by biallelic loss-of-function variants of the <i>NDUFAF6</i> gene
Qi Yang, Qiang Zhang, Xunzhao Zhou, et al.
Clinical Chemistry
|
June 23, 2026
Rapid Detection of Hemoglobinopathy Variants Using One-Step Library Preparation and Nanopore Sequencing
Xu Yang, Shang Yi, Xingyu Wei, et al.
Blood Cells, Molecules & Diseases
|
February 5, 2017
The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients
Yunli Lai, Lin Zhou, Sheng Yi, et al.
Naunyn-Schmiedeberg'S Archives of Pharmacology
|
February 13, 2025
Combining network pharmacology and RNA sequencing to reveal the mechanism of emodin for the treatment of human neuroblastoma
Hai-Mei Jiang, Shang-Yi Huang, Dan Huang, et al.
Page
of 36