Specific Genetic Disorders

Pub Date A-Z
Molecular Genetics in Acromegaly
Paraskevi Xekouki, Constantine A Stratakis
Published online: February 2016
Monogenic Autoinflammatory Diseases
James Verbsky, Joel Gallagher
Published online: February 2016
Molecular Genetics of Stüve–Wiedemann Syndrome
Julia T Oxford
Published online: February 2016
Molecular Genetics of Multiple Osteochondromas
Carlos E de Andrea, Pancras CW Hogendoorn, Judith VMG Bovée
Published online: January 2016
Genetics of Essential Tremor
Félix Javier Jiménez‐Jiménez, Hortensia Alonso‐Navarro, Elena García‐Martín, Sara Ortega‐Cubero, Pau Pastor, José AG Agúndez
Published online: January 2016
Molecular Genetics of Hereditary Folate Malabsorption
David Watkins
Published online: January 2016
Fructose Metabolism Disorders
Timothy M Cox
Published online: December 2015
Mitochondrial Depletion Syndromes
Josef Finsterer, Salma M Wakil
Published online: December 2015
Iron‐Loading Anaemia
Edward J Jr Benz
Published online: November 2015
Copper Metabolism, ATP7A and Menkes Disease
Hannah Pierson, Svetlana Lutsenko, Zeynep Tümer
Published online: November 2015
X‐Linked Intellectual Disability Genetics
Charles E Schwartz
Published online: October 2015
Molecular Genetics of the IPEX Syndrome
Khalid Bin Dhuban, Ciriaco A Piccirillo
Published online: September 2015
Immunodeficiency, Primary: Affecting the Adaptive Immune System
Mauno Vihinen
Published online: September 2015
Hereditary Breast Cancer Syndromes: Molecular Pathogenesis and Diagnostics
S Vos, P Van der Groep, E Van der Wall, Paul J Van Diest
Published online: September 2015
Splicing Modulation as Therapy for Human Genetic Disease
Umasuthan Srirangalingam, Bernard Khoo
Published online: July 2015
Cystinuria
David S Goldfarb
Published online: July 2015
Molecular Genetics of Creutzfeldt–Jakob Disease and Gerstmann– Sträussler– Scheinker Disease
Ellen Gelpi, Marti Colom‐Cadena, Herbert Budka
Published online: June 2015
Amyloidosis
Merrill D Benson
Published online: June 2015
Molecular Genetics of Limb‐Girdle Muscular Dystrophies
Massimiliano Filosto, Mauro Scarpelli, Alessandro Padovani
Published online: May 2015
Molecular Genetics of Aortic Aneurysms and Aortic Dissections
Ellen S Regalado, Dianna M Milewicz
Published online: March 2015
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