Genetics & Disease

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

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
Repetitive Elements and Human Disorders
Tiffany K Kaul, Maria E Morales, Prescott L Deininger
Published online: September 2017
Functional Complementation
Yukio Fujiki
Published online: September 2017
Genetic Disease: Prevalence
Joël Zlotogora
Published online: September 2017
Sickle Cell Disease as a Multi‐Factorial Condition
Martin H Steinberg, Madeleine M Verhovsek
Published online: September 2017
Mismatch Repair Genes
Minttu Kansikas, Minna Nyström, Päivi Peltomäki
Published online: September 2017
Molecular Genetics of Familial Mediterranean Fever
Gayane Manukyan, Rustam Aminov, Zaruhi Khachatryan, Levon Yepiskoposyan
Published online: September 2017
Neurofibromatosis Type 2 Clinics and Genetics
Lan Kluwe, Said Farschtschi, Victor‐F Mautner
Published online: September 2017
Genetics of Long QT and Short QT Syndromes
Riccardo Maragna, Andrea Mazzanti, Silvia G Priori
Published online: September 2017
Genetics of Isolated Hereditary Nail Disorder
Sulman Basit
Published online: September 2017
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