Search Result "Rare variant"
Bootstrap Restricted Likelihood Ratio Test for the Detection of Rare Variants
Journal: Current Genomics
Volume: 16 Issue: 3 Year: 2015 Page: 194-202
Author(s): Ping Zeng,Ting Wang
Apolipoprotein E Gene Revisited: Contribution of Rare Variants to Alzheimerâs Disease Susceptibility in Southern Chinese
Journal: Current Alzheimer Research
Volume: 18 Issue: 1 Year: 2021 Page: 67-79
Author(s): Anita Yee,Nancy B.Y. Tsui,Rick Y.C. Kwan,Angela Y.M. Leung,Claudia K.Y. Lai,Teresa Chung,Johnson Y.N. Lau,Manson Fok,David L.K. Dai,Lok-Ting Lau
A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations
Journal: Current Gene Therapy
Volume: 19 Issue: 4 Year: 2019 Page: 242-247
Author(s): Nan Wu,Lianlei Wang,Jianhua Hu,Sen Zhao,Bowen Liu,Yaqi Li,Huakang Du,Yuanqiang Zhang,Xiaoxin Li,Zihui Yan,Shengru Wang,Yipeng Wang,Jianguo Zhang,Zhihong Wu,DISCO (Deciphering Disorders Involving Scoliosis & Comorbidities) study group,Guixing Qiu
Genetic Variants of α 1-Antitrypsin
Journal: Current Protein & Peptide Science
Volume: 11 Issue: 2 Year: 2010 Page: 101-117
Author(s): Parveen Salahuddin
NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment
Journal: Current Medicinal Chemistry
Volume: 25 Issue: 3 Year: 2018 Page: 404-432
Author(s): Ana Fernandez-Marmiesse,Sofia Gouveia,Maria L. Couce
Schizophrenia Patient Shows a Rare Interleukin 15 Receptor alpha Variant Disrupting Signal Transduction
Journal: Current Molecular Medicine
Volume: 19 Issue: 8 Year: 2019 Page: 560-569
Author(s): Yanli Pan,Zhimin Wang,Guangping Zhang,Junhua Guo,Xuequan Zhu,Jia Zhou,Zhenrong Zhang,Zuoli Sun,Jian Yang,Abba J. Kastin,Weihong Pan,Xiaojun Wu,Jianliang Zhang,Xiaomin Wang,Chuanyue Wang,Yi He
Rare Germline GLMN Variants Identified from Blue Rubber Bleb Nevus Syndrome Might Impact mTOR Signaling
Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 22 Issue: 10 Year: 2019 Page: 675-682
Author(s): Jie Yin,Zhongping Qin,Kai Wu,Yufei Zhu,Landian Hu,Xiangyin Kong
GCPII Variants, Paralogs and Orthologs
Journal: Current Medicinal Chemistry
Volume: 19 Issue: 9 Year: 2012 Page: 1316-1322
Author(s): K. Hlouchova, V. Navratil, J. Tykvart, P. Sacha, J. Konvalinka
OHVIRA Syndrome (Obstructed Hemivagina and Ipsilateral Renal Anomaly) and Variants
Journal: Current Women`s Health Reviews
Volume: 10 Issue: 1 Year: 2014 Page: 22-25
Author(s): Aw Lin Da,Lim Tze Chou,Murizah Mohd Zain
Common Variants for Heart Failure
Journal: Current Genomics
Volume: 16 Issue: 2 Year: 2015 Page: 82-87
Author(s): Shutong Shen,Lichan Tao,Xiuzhi Wang,Xiangqing Kong,Xinli Li