Specific Genetic Disorders

Pub Date A-Z
Molecular Genetics of the IPEX Syndrome
Khalid Bin Dhuban, Ciriaco A Piccirillo
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
Porphyrias
Siddesh Besur, Herbert L Bonkovsky
Published online: February 2015
Lamins: Organisation, Dynamics and Functions
Noam Zuela, Yosef Gruenbaum
Published online: February 2015
Renal Ciliopathies
Carsten Bergmann
Published online: January 2015
Molecular Genetics of Gitelman Syndrome
Giacomo Colussi, Silvana Tedeschi, Alberto Bettinelli, Marie Louise Syrén
Published online: December 2014
Membrane Traffic and Disease
Nuno Cláudio, Francisco JC Pereira, Duarte C Barral
Published online: November 2014
Molecular Genetics of Joubert Syndrome
Francesca Mancini, Marta Romani, Alessia Micalizzi, Enza Maria Valente
Published online: October 2014
Congenital Adrenal Hyperplasia
Mabel Yau, Christian Pina, Ahmed Khattab, Maria I New
Published online: October 2014
Molecular Genetics of Inherited Glucocorticoid Deficiency
Eirini Meimaridou, Julia Kowalczyk, Louise A Metherell
Published online: October 2014
Lecithin:Cholesterol Acyltransferase (LCAT) Deficiency: Molecular Genetics
Laura Calabresi, Alice Ossoli, Guido Franceschini
Published online: October 2014
Molecular Genetics of Cataract
Alan Shiels, J Fielding Hejtmancik
Published online: September 2014
Molecular Genetics of 21‐Hydroxylase Deficiency
Silvia Parajes, Nils Krone
Published online: September 2014
Molecular Genetics of Costello Syndrome
Emma MM Burkitt Wright, Bronwyn Kerr
Published online: September 2014
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