Genetics & Disease

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

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
Inherited Pulmonary Disorders
Stefan J Marinicak, David A Lomas
Published online: August 2017
Ornithine Transcarbamylase Deficiency: Genetics
Luisa Azevedo, Ana Sofia Oliveira, Antonio Amorim
Published online: August 2017
Molecular Genetics of Inherited Thrombocytopenias
Anna Savoia
Published online: August 2017
Genetics of Hereditary Large Vessel Diseases
Takayuki Morisaki, Hiroko Morisaki
Published online: August 2017
Molecular Genetics of Isolated Acromesomelic Dysplasia
Saad U Khan, Sher A Khan, Noor Muhammad
Published online: August 2017
Genotype–Phenotype Relationship in Inherited Disorders of Hearing Impairment
Lies H Hoefsloot, Anne‐Francoise Roux
Published online: July 2017
Genetics of Mevalonate Kinase Deficiency
Grant S Schulert
Published online: July 2017
Molecular Genetics of Hyperaldosteronism
Ute I Scholl
Published online: July 2017
Lamins in Inherited Disease
Lucio Comai
Published online: July 2017
Molecular Genetics of Menkes Disease
Heather S Comstra, Victor Faundez
Published online: July 2017
Neutrophil Functional Disorders
Annemarie van de Geer, Roel P Gazendam, Taco W Kuijpers, Dirk Roos
Published online: June 2017
DNA Methylation and Mutation
Gerd P Pfeifer
Published online: June 2017
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