254 matches found
in topic Genetics & Disease
RNA Editing and Human Disorders
Jonatha M Gott
Published online: June 2011
Molecular Genetics of Sleep Disorders
Emrah Caylak
Published online: June 2011
Multiple Endocrine Neoplasias
John W Kunstman, Tobias Carling
Published online: May 2011
Lesch–Nyhan Disease
JE Visser, HA Jinnah
Published online: May 2011
Peroxisome Biogenesis Disorders
Yukio Fujiki
Published online: May 2011
Mitochondrial Disorders: Nuclear Gene Mutations
Daniele Ghezzi, Massimo Zeviani
Published online: April 2011
Digenic Inheritance
Jerry Vockley
Published online: April 2011
Microsatellites
Jörg T Epplen, Amer D Akkad
Published online: April 2011
Facioscapulohumeral Muscular Dystrophy
Tawil Rabi, Silvere Van der Maarel
Published online: April 2011
Factor V Leiden
Björn Dahlbäck
Published online: March 2011
Retinoblastoma
Dietmar R Lohmann, Brenda L Gallie
Published online: March 2011
Brain Tumours
Giselle Y López, Thomas J Cummings, Darell D Bigner, Roger E McLendon
Published online: March 2011
Mutagenesis Mechanisms
Yaroslava Y Polosina, Claire G Cupples
Published online: February 2011
Protein Misfolding and Degradation in Genetic Disease
Peter Bross, Brage S Andresen, Thomas J Corydon, Niels Gregersen
Published online: February 2011
Gonadotropin Hormones: Disorders
Alejandro Martinez‐Aguayo, Mehul T Dattani, John C Achermann
Published online: February 2011
Protein Interaction and Genetic Disease
Niels Gregersen, Peter Bross, Rikke KJ Olsen, Johan Palmfeldt, Thomas J Corydon
Published online: February 2011
Gain‐ and Loss‐of‐function Mutations in Trypsinogen
Jian‐Min Chen, Claude Férec
Published online: February 2011
Genomic Rearrangements: Mutational Mechanisms
Jian‐Min Chen
Published online: February 2011
Schizophrenia and 22q11.2 Deletion Syndrome
Frederick Sundram, Kieran C Murphy
Published online: January 2011
Mucopolysaccharide Storage Disorders
Mirella Filocamo, David N Cooper, Maja Di Rocco
Published online: January 2011
DNA Strand Break Repair and Human Genetic Disease
Tatiana García‐Muse, Andrés Aguilera
Published online: January 2011
Cystathionine β‐synthase (CBS) Deficiency: Genetics
Viktor Kožich, Warren D Kruger, Jan Peter Kraus
Published online: December 2010
Tay–Sachs Disease
Michael Tropak, Don J Mahuran
Published online: December 2010