Search Result "rare variants"


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

Research Article

Apolipoprotein E Gene Revisited: Contribution of Rare Variants to Alzheimer’s 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

Research Article open access plus

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): DISCO (Deciphering Disorders Involving Scoliosis & Comorbidities) study group,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,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

Review Article open access plus

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

Research Article

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

Research Article

Rare Germline GLMN Variants Identified from Blue Rubber Bleb Nevus Syndrome Might Impact mTOR Signaling

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 22 Issue: 1 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

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