Search Result "frameshift"


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

An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder

Journal: Current Genomics
Volume: 19 Issue: 5 Year: 2018 Page: 370-374
Author(s): Hong Xia,Xiangjun Huang,Hongbo Xu,Yi Guo,Pengzhi Hu,Xiong Deng,Zhijian Yang,An Liu,Hao Deng

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

Coding Constraints Modulate Chemically Spontaneous Mutational Replication Gradients in Mitochondrial Genomes

Journal: Current Genomics
Volume: 13 Issue: 1 Year: 2012 Page: 37-54
Author(s): Herve Seligmann

Endometrial Cancer as a Familial Tumor: Pathology and Molecular Carcinogenesis (Review)

Journal: Current Genomics
Volume: 10 Issue: 2 Year: 2009 Page: 127-132
Author(s): Kouji Banno, Megumi Yanokura, Yusuke Kobayashi, Makiko Kawaguchi, Hiroyuki Nomura, Akira Hirasawa, Nobuyuki Susumu, Daisuke Aoki

Targeting RNA with Small Molecules

Journal: Current Medicinal Chemistry
Volume: 7 Issue: 1 Year: 2000 Page: 73-98
Author(s): W. David Wilson, Ke Li

Alkaptonuria, Ochronosis and Ochronotic Arthropathy in Mainland France and the Reunion Island. A Report of Clinical and Molecular Findings in 29 Patients

Journal: Current Rheumatology Reviews
Volume: 5 Issue: 2 Year: 2009 Page: 111-125
Author(s): Robert Aquaron, Santiago Rodriguez de Cordoba, Miguel Penalva, Catherine Badens, Hubert Roux

How and Why to Screen for CYP2D6 Interindividual Variability in Patients Under Pharmacological Treatments

Journal: Current Drug Metabolism
Volume: 11 Issue: 3 Year: 2010 Page: 276-282
Author(s): Manuela De Gregori, Massimo Allegri, Simona De Gregori, Giulia Garbin, Carmine Tinelli, Mario Regazzi, Stefano Govoni, Guglielmina Nadia Ranzani

Research Article

Seven Novel and Three Known Mutations in FOXL2 in 10 Chinese Families with Blepharophimosis Syndrome

Journal: Current Molecular Medicine
Volume: 18 Issue: 3 Year: 2018 Page: 152-159
Author(s): B. Lin,B. Zeng,J. Zhao,T. Xu,Y. Wang,B. Hu,F. Li,Q. Zhao,R. Liu,J. Liu,J.M. Chen,D. Huang,Y. Wang

Preclinical Models of Multiple Sclerosis: Advantages and Limitations Towards Better Therapies

Journal: Current Medicinal Chemistry
Volume: 23 Issue: 14 Year: 2016 Page: 1442-1459
Author(s): Alessandro Didonna

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