277 matches found
in topic Genetics & Disease
Malignant Hyperthermia and Central Core Disease
Tommie V McCarthy
Published online: November 2011
Down Syndrome
David Patterson, Ira T Lott
Published online: October 2011
Genetics of the Autosomal Dominant Spinocerebellar Ataxias
Marc Corral‐Juan, Jordi Corral, Héctor San Nicolás, Victor Volpini, Antoni Matilla‐Dueñas
Published online: October 2011
Noonan Syndrome
Marco Tartaglia, Bruce D Gelb
Published online: September 2011
Cardiofaciocutaneous (CFC) Syndrome
Ellen Denayer, Eric Legius
Published online: September 2011
Molecular Genetics of Endometriosis
Jodie N Painter, Krina T Zondervan, Stacey A Missmer, Grant W Montgomery
Published online: September 2011
Capillary Malformation–Arteriovenous Malformation and RASA1 Mutations
Laurence M Boon, Nicole Revencu, Miikka Vikkula
Published online: September 2011
Monogenic Hypercholesterolemia: Genetics
Ian N M Day
Published online: August 2011
Spinal Muscular Atrophy
Michelle A Farrar, Matthew C Kiernan
Published online: August 2011
Phenylketonuria
Flemming Güttler, Per Guldberg
Published online: August 2011
Human Disease and the Desmosome
Martyn Chidgey
Published online: August 2011
Chronic Obstructive Pulmonary Disease
RA Stockley
Published online: June 2011
Parkinson Disease
Taku Hatano, Nobutaka Hattori
Published online: May 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
Facioscapulohumeral Muscular Dystrophy
Tawil Rabi, Silvere Van der Maarel
Published online: April 2011
Molecular and Cellular Basis of Learning Difficulties in Genetic Disorders
Cortney Crego, Anthony Landreth, Alcino J Silva
Published online: April 2011
Factor V Leiden
Björn Dahlbäck
Published online: March 2011
Retinoblastoma
Dietmar R Lohmann, Brenda L Gallie
Published online: March 2011