Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Molecular Genetics of the Paroxysmal Dyskinesias
Rauan Kaiyrzhanov, Henry Houlden
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
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
Molecular Genetics of Common Variable Immunodeficiency
Delfien J Bogaert, Melissa Dullaers, Elfride De Baere, Filomeen Haerynck
Published online: October 2017
Genetics of Isolated Hereditary Nail Disorder
Sulman Basit
Published online: September 2017
Sickle Cell Disease as a Multi‐Factorial Condition
Martin H Steinberg, Madeleine M Verhovsek
Published online: September 2017
Genetics of Long QT and Short QT Syndromes
Riccardo Maragna, Andrea Mazzanti, Silvia G Priori
Published online: September 2017
Functional Complementation
Yukio Fujiki
Published online: September 2017
Molecular Genetics of Familial Mediterranean Fever
Gayane Manukyan, Rustam Aminov, Zaruhi Khachatryan, Levon Yepiskoposyan
Published online: September 2017
Genetic Disease: Prevalence
Joël Zlotogora
Published online: September 2017
Repetitive Elements and Human Disorders
Tiffany K Kaul, Maria E Morales, Prescott L Deininger
Published online: September 2017
Neurofibromatosis Type 2 Clinics and Genetics
Lan Kluwe, Said Farschtschi, Victor‐F Mautner
Published online: September 2017
Mismatch Repair Genes
Minttu Kansikas, Minna Nyström, Päivi Peltomäki
Published online: September 2017
Ornithine Transcarbamylase Deficiency: Genetics
Luisa Azevedo, Ana Sofia Oliveira, Antonio Amorim
Published online: August 2017
Genetics of Hereditary Large Vessel Diseases
Takayuki Morisaki, Hiroko Morisaki
Published online: August 2017
Inherited Pulmonary Disorders
Stefan J Marinicak, David A Lomas
Published online: August 2017
Molecular Genetics of Isolated Acromesomelic Dysplasia
Saad U Khan, Sher A Khan, Noor Muhammad
Published online: August 2017
Molecular Genetics of Inherited Thrombocytopenias
Anna Savoia
Published online: August 2017
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