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Human Genomics
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December 8, 2020
KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses
Yuyi Ying, Lu Lu, Santasree Banerjee, et al.
Oncology Letters
|
August 22, 2018
Identification of a novel breast cancer-causing mutation in the <i>BRCA1</i> gene by targeted next generation sequencing: A case report
Yanyan Wang, Da Jiang, Qiang Zhao, et al.
Human Mutation
|
September 9, 2011
Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population
Min Pan, Peikuan Cong, Yue Wang, et al.
Oncotarget
|
November 17, 2016
Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2
Santasree Banerjee, Huishuang Chen, Hui Huang, et al.
Neurogenetics
|
October 2, 2025
ZNRF3 in neurodevelopmental disorders: insights into Wnt signaling and therapeutic potential
Yasmin Yusuf Hussein Dinle, Ruping Liu, Mainak Sengupta, et al.
Frontiers in Genetics
|
February 27, 2019
Targeted Next Generation Sequencing Revealed a Novel Homozygous <i>Loss-of-Function</i> Mutation in <i>ILDR1</i> Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family
Jinxia An, Jie Yang, Yan Wang, et al.
Journal of Cellular and Molecular Medicine
|
January 5, 2020
Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis
Peng Han, Guohong Wei, Ke Cai, et al.
Oncotarget
|
May 1, 2017
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients
Hui Huang, Ying Wang, Huishuang Chen, et al.
Journal of Cellular and Molecular Medicine
|
December 17, 2019
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome
Rui Zhang, Shaoyun Chen, Peng Han, et al.
Oncotarget
|
October 15, 2016
Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome
Dongzhu Lei, Shaoyuan Li, Santasree Banerjee, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 55) with videos related to
Sort By:
Page
of 6
Human Genomics
|
December 8, 2020
KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses
Yuyi Ying, Lu Lu, Santasree Banerjee, et al.
Oncology Letters
|
August 22, 2018
Identification of a novel breast cancer-causing mutation in the <i>BRCA1</i> gene by targeted next generation sequencing: A case report
Yanyan Wang, Da Jiang, Qiang Zhao, et al.
Human Mutation
|
September 9, 2011
Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population
Min Pan, Peikuan Cong, Yue Wang, et al.
Oncotarget
|
November 17, 2016
Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2
Santasree Banerjee, Huishuang Chen, Hui Huang, et al.
Neurogenetics
|
October 2, 2025
ZNRF3 in neurodevelopmental disorders: insights into Wnt signaling and therapeutic potential
Yasmin Yusuf Hussein Dinle, Ruping Liu, Mainak Sengupta, et al.
Frontiers in Genetics
|
February 27, 2019
Targeted Next Generation Sequencing Revealed a Novel Homozygous <i>Loss-of-Function</i> Mutation in <i>ILDR1</i> Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family
Jinxia An, Jie Yang, Yan Wang, et al.
Journal of Cellular and Molecular Medicine
|
January 5, 2020
Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis
Peng Han, Guohong Wei, Ke Cai, et al.
Oncotarget
|
May 1, 2017
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients
Hui Huang, Ying Wang, Huishuang Chen, et al.
Journal of Cellular and Molecular Medicine
|
December 17, 2019
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome
Rui Zhang, Shaoyun Chen, Peng Han, et al.
Oncotarget
|
October 15, 2016
Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome
Dongzhu Lei, Shaoyuan Li, Santasree Banerjee, et al.
Page
of 6