Genetics & Disease

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408 matches found in topic Genetics & Disease
Listings: 1-25   26-50   51-75   76-100   more...

DNA Helicase Deficiency Disorders
Julia M Sidorova, Raymond J Monnat Jr
Published online: February 2018
Telomeres and Telomerase in Ageing and Cancer
Michel M Ouellette
Published online: February 2018
Mutagenesis: Site‐Directed
Mari J Walquist, M Raafat El‐Gewely
Published online: January 2018
Ion Channels and Human Disorders
Dipa L Raja Rayan, Michael G Hanna
Published online: January 2018
Renal Carcinoma and von Hippel–Lindau Disease
Thomas M Connor, Patrick H Maxwell
Published online: January 2018
DNA Strand Break Repair and Human Genetic Disease
Tatiana García‐Muse, Andrés Aguilera
Published online: January 2018
Molecular Genetics of Emery–Dreifuss Muscular Dystrophy
Peter Meinke
Published online: January 2018
Non‐B DNA Structure and Mutations Causing Human Genetic Disease
Albino Bacolla, David N Cooper, Karen M Vasquez, John A Tainer
Published online: January 2018
Competitive and Covalent Inhibitors of Human Lysosomal Retaining Exoglucosidases
Imogen Z Breen, Marta Artola, Liang Wu, Thomas JM Beenakker, Wendy A Offen, Johannes MFG Aerts, Gideon J Davies, Herman S Overkleeft
Published online: January 2018
Dominant Traits and Diseases
Lynn B Jorde
Published online: November 2017
Haploinsufficiency
Andrew P Read
Published online: November 2017
Genetics of X‐Linked Intellectual Disability
Małgorzata Z Lisik
Published online: November 2017
Molecular Genetics of Schwannomatosis
Theo JM Hulsebos
Published online: November 2017
Pathogenetic Mechanisms in Alagille Syndrome
Roya Hakimjavadi, Abidemi Olayinka, Mariana Di Luca, Shaunta Guha, Dermot Walls, Eileen M Redmond, Paul A Cahill
Published online: November 2017
Molecular Genetics of Usher Syndrome: Current State of Understanding
Ralph WN Slijkerman, Hannie Kremer, Erwin van Wijk
Published online: November 2017
Protein Conformational Disease: Visit the Facts at a Glance
Yunhui Peng, Emil Alexov
Published online: November 2017
Thalassaemias
Deborah Hay, David J Weatherall
Published online: October 2017
The Fragile X Syndrome
Edouard W Khandjian, Claude Robert, Olfa Khalfallah, Laetitia Davidovic
Published online: October 2017
Oxidative Phosphorylation System: Nuclear Genes and Genetic Disease
Laura Sánchez‐Caballero, Fabian Baertling, Leo Nijtmans, Jan AM Smeitink
Published online: October 2017
Segmental Duplications and Genetic Disease
Feyza Yilmaz, Tamim H Shaikh, Beverly S Emanuel
Published online: October 2017
The Genetics of Autism
Varun Warrier, Simon Baron‐Cohen
Published online: October 2017
Pathological Mutations in 5′ Untranslated Regions of Human Genes
Sangeeta Chatterjee, Shilpa J Rao, Jayanta K Pal
Published online: October 2017
Molecular Genetics of Common Variable Immunodeficiency
Delfien J Bogaert, Melissa Dullaers, Elfride De Baere, Filomeen Haerynck
Published online: October 2017
Molecular Genetics of the Paroxysmal Dyskinesias
Rauan Kaiyrzhanov, Henry Houlden
Published online: October 2017
Lysosomal Storage Diseases. For Better or Worse: Adapting to Defective Lysosomal Glycosphingolipid Breakdown
Johannes M Aerts, Maria J Ferraz, Mina Mirzaian, Paulo Gaspar, Saskia V Oussoren, Patrick Wisse, Chi‐Lin Kuo, Lindsey T Lelieveld, Kassiani Kytidou, Marc D Hazeu, Daphne EC Boer, Rianne Meijer, Martijn JC van der Lienden, Daniela HM Chao, Tanit L Gabriel, Jan Aten, Herman S Overkleeft, Marco van Eijk, Rolf G Boot, André RA Marques
Published online: October 2017
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