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Chinese Medical Journal
|
February 22, 2023
Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism
Lijuan Zhong, Yin Li, Xiaohong He, et al.
Oncotarget
|
December 17, 2016
Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia
Santasree Banerjee, Dongzhu Lei, Shengran Liang, et al.
Oncotarget
|
July 16, 2016
In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses
Santasree Banerjee, Qian Wu, Yuyi Ying, et al.
Frontiers in Genetics
|
December 1, 2025
Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the <i>SPTB</i> gene that causes hereditary spherocytosis with hemolytic anemia
Ke Cao, Xiaojuan Luo, Lianlian Liu, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|
May 29, 2016
A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family
Santasree Banerjee, Yi Dai, Shengran Liang, et al.
Oncotarget
|
April 21, 2017
A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis
Dan Wang, Shengyun Liang, Zhao Zhang, et al.
Orphanet Journal of Rare Diseases
|
May 14, 2025
Genetic variants of SLC6A4 and risk of coronary artery disease: insights from North Indian population
Jyotdeep Kour Raina, Minakashee Sharma, Ravi Sharma, et al.
The Journal of Sexual Medicine
|
August 5, 2021
Genetic Profiles and Three-year Follow-up Study of Chinese Males With Congenital Hypogonadotropic Hypogonadism
Luyao Zhang, Yuting Gao, Qin Du, et al.
The Application of Clinical Genetics
|
June 5, 2024
Identification of a Novel Homozygous Mutation in <i>MTMR2</i> Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1
Nan Du, Xiaolei Wang, Zhaohui Wang, et al.
Advances in Clinical Chemistry
|
January 16, 2025
Visceral fat distribution: Interracial studies
Santasree Banerjee, Jiayin Lv, Chang He, et al.
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Search research articles
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Showing results (11-20 of 55) with videos related to
Sort By:
Page
of 6
Chinese Medical Journal
|
February 22, 2023
Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism
Lijuan Zhong, Yin Li, Xiaohong He, et al.
Oncotarget
|
December 17, 2016
Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia
Santasree Banerjee, Dongzhu Lei, Shengran Liang, et al.
Oncotarget
|
July 16, 2016
In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses
Santasree Banerjee, Qian Wu, Yuyi Ying, et al.
Frontiers in Genetics
|
December 1, 2025
Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the <i>SPTB</i> gene that causes hereditary spherocytosis with hemolytic anemia
Ke Cao, Xiaojuan Luo, Lianlian Liu, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|
May 29, 2016
A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family
Santasree Banerjee, Yi Dai, Shengran Liang, et al.
Oncotarget
|
April 21, 2017
A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis
Dan Wang, Shengyun Liang, Zhao Zhang, et al.
Orphanet Journal of Rare Diseases
|
May 14, 2025
Genetic variants of SLC6A4 and risk of coronary artery disease: insights from North Indian population
Jyotdeep Kour Raina, Minakashee Sharma, Ravi Sharma, et al.
The Journal of Sexual Medicine
|
August 5, 2021
Genetic Profiles and Three-year Follow-up Study of Chinese Males With Congenital Hypogonadotropic Hypogonadism
Luyao Zhang, Yuting Gao, Qin Du, et al.
The Application of Clinical Genetics
|
June 5, 2024
Identification of a Novel Homozygous Mutation in <i>MTMR2</i> Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1
Nan Du, Xiaolei Wang, Zhaohui Wang, et al.
Advances in Clinical Chemistry
|
January 16, 2025
Visceral fat distribution: Interracial studies
Santasree Banerjee, Jiayin Lv, Chang He, et al.
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of 6