Search Result "molecular variants"


Review Article

Migraine: Genetic Variants and Clinical Phenotypes

Journal: Current Medicinal Chemistry
Volume: 26 Issue: 3 Year: 2019 Page: 6207-6221
Author(s): Innocenzo Rainero,Alessandro Vacca,Flora Govone,Annalisa Gai,Lorenzo Pinessi,Elisa Rubino

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

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

General Research Article

Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention

Journal: Current Genomics
Volume: 20 Issue: 7 Year: 2019 Page: 519-530
Author(s): Rahul Tyagi,Sumit Kumar,Ashwin Dalal,Faruq Mohammed,Manju Mohanty,Paramvir Kaur,Akshay Anand

Research Article

Asymptomatic Carriers of Presenilin-1 E318G Variant Show no Cerebrospinal Fluid Biochemical Signs Suggestive of Alzheimer’s disease in a Family with Late-onset Dementia

Journal: Current Alzheimer Research
Volume: 16 Issue: 1 Year: 2019 Page: 1-7
Author(s): Vladimiro Artuso,Luisa Benussi,Roberta Ghidoni,Soraya Moradi-Bachiller,Federica Fusco,Stefano Curtolo,Ignazio Roiter,Gianluigi Forloni,Diego Albani

Research Article

Evaluation of Activity Kinetic Parameters of SK319cys, As a New Cysteine Variant of Streptokinase: A Comparative Study

Journal: Current Pharmaceutical Biotechnology
Volume: 20 Issue: 1 Year: 2019 Page: 76-83
Author(s): Narges N. Alinodehi,Sanaz Sadeh,Farahnaz K. Nezamiha,Malihe Keramati,Mehdi Hasanzadeh,Reza A. Mianroodi

Research Article

The Genetic Variants of IKZF1 Gene Linked with the Growing Risk of Childhood Acute Lymphoblastic Leukaemia

Journal: Current Molecular Medicine
Volume: 19 Issue: 1 Year: 2019 Page: 32-39
Author(s): Safaa I. Tayel,Sally M. El-Hefnway,Wafaa Moustafa M. Abo El-fotoh,Rania S. El-Zayat

Review Article

Homologation: A Versatile Molecular Modification Strategy to Drug Discovery

Journal: Current Topics in Medicinal Chemistry
Volume: 19 Issue: 1 Year: 2019 Page: 1734-1750
Author(s): Lídia M. Lima,Marina A. Alves,Daniel N. do Amaral

Research Article

Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency

Journal: Current Molecular Medicine
Volume: 19 Issue: 7 Year: 2019 Page: 487-493
Author(s): Bárbara J. Henriques,Tânia G. Lucas,Esmeralda Martins,Ana Gaspar,Anabela Bandeira,Célia Nogueira,Otilia Brandão,Hugo Rocha,Laura Vilarinho,Cláudio M. Gomes

Review Article

The Molecular Pathology of Eye Tumors: A 2019 Update Main Interests for Routine Clinical Practice

Journal: Current Molecular Medicine
Volume: 19 Issue: 9 Year: 2019 Page: 632-664
Author(s): Sacha Nahon-Esteve,Arnaud Martel,Célia Maschi,Jean-Pierre Caujolle,Stéphanie Baillif,Sandra Lassalle,Paul Hofman

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