Specific Genetic Disorders

Pub Date A-Z
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 Inherited Glucocorticoid Deficiency
Eirini Meimaridou, Julia Kowalczyk, Louise A Metherell
Published online: October 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
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 Costello Syndrome
Emma MM Burkitt Wright, Bronwyn Kerr
Published online: September 2014
Molecular Genetics of 21‐Hydroxylase Deficiency
Silvia Parajes, Nils Krone
Published online: September 2014
Molecular Genetics of Chronic Lymphocytic Leukaemia
María Hernández‐Sánchez, Ana Eugenia Rodríguez Vicente, Jesús María Hernández‐Rivas
Published online: August 2014
Molecular Genetics of Congenital Diaphragmatic Hernia
Mauro Longoni, Meaghan K Russell, Barbara R Pober
Published online: July 2014
Molecular Genetics of Paget's Disease of Bone
Luigi Gennari, Fernando Gianfrancesco, Domenico Rendina, Daniela Merlotti
Published online: July 2014
The Molecular Genetics of Corticotroph Tumours
Dorota Dworakowska, Ashley B Grossman
Published online: July 2014
Genetics of PTEN Hamartoma Tumour Syndrome
Robert T Pilarski
Published online: July 2014
Molecular Genetics of Human Facial Dysostoses
Johanna Christina Czeschik, Dagmar Wieczorek
Published online: June 2014
Molecular Genetics of Dilated Cardiomyopathy
Luisa Mestroni, Charles A Tharp, Mary E Sweet, Sharon L Graw, Matthew RG Taylor
Published online: June 2014
Molecular Genetics of Holt–Oram Syndrome
Phil Barnett, Alex V Postma
Published online: June 2014
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