Search Result "whole exome sequencing"


General Research Article

Identification of Two Novel Mutations in the ATM Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing

Journal: Current Genomics
Volume: 20 Issue: 7 Year: 2019 Page: 531-534
Author(s): Masoud Heidari,Morteza Soleyman-Nejad,Mohammad H. Taskhiri,Javad Shahpouri,Alireza Isazadeh,Roghayyeh Ahangari,Ali R. Mohamadi,Masoumeh Ebrahimi,Hadi Karimi,Manzar Bolhassani,Zahra Karimi,Mansour Heidari

Research Article

Probable Novel PSEN1 Gln222Leu Mutation in a Chinese Family with Early-Onset Alzheimer's Disease

Journal: Current Alzheimer Research
Volume: 16 Issue: 8 Year: 2019 Page: 764-769
Author(s): Huayuan Wang,Ruihua Sun,Yingying Shi,Mingrong Xia,Jing Zhao,Miaomiao Yang,Limin Ma,Yajing Sun,Gai Li,Haohan Zhang,Weiwei Qin,Jiewen Zhang

Research Article

Autosomal Recessive Non-syndromic Keratoconus: Homozygous Frameshift Variant in the Candidate Novel Gene GALNT14

Journal: Current Molecular Medicine
Volume: 19 Issue: 9 Year: 2019 Page: 683-687
Author(s): Tawfiq Froukh,Ammar Hawwari

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

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

Review Article

PIK3R1 Mutation Associated with Hyper IgM (APDS2 Syndrome): A Case Report and Review of the Literature

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 19 Issue: 7 Year: 2019 Page: 941-958
Author(s): Reza Yazdani,Zahra Hamidi,Fateme Babaha,Gholamreza Azizi,Saba Fekrvand,Hassan Abolhassani,Asghar Aghamohammadi

Research Article

A COL4A5 Missense Variant in a Han-Chinese Family with X-linked Alport Syndrome

Journal: Current Molecular Medicine
Volume: 19 Issue: 1 Year: 2019 Page: 758-765
Author(s): Yuan Wu,Yi Guo,Jinzhong Yuan,Hongbo Xu,Yong Chen,Hao Zhang,Mingyang Yuan,Hao Deng,Lamei Yuan

Review Article

Screening for Rare Genetic Variants Associated with Atherosclerosis: Opportunity for Personalized Medicine

Journal: Current Vascular Pharmacology
Volume: 17 Issue: 1 Year: 2019 Page: 25-28
Author(s): Ana Peterlin,Danijel Petrovic,Borut Peterlin

Review Article

Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management

Journal: Current Medicinal Chemistry
Volume: 26 Issue: 3 Year: 2019 Page: 6766-6775
Author(s): Jose María Bastida,María Luisa Girós,Rocío Benito,Kamila Janusz,Jesús María Hernández-Rivas,José Ramón González-Porras

Review Article

Cancer Biomarker Discovery for Precision Medicine: New Progress

Journal: Current Medicinal Chemistry
Volume: 26 Issue: 4 Year: 2019 Page: 7655-7671
Author(s): Jinfeng Zou,Edwin Wang

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