Specific Genetic Disorders

Pub Date A-Z
Genetics of Glomerular Basement Membrane Disorders
Clifford E Kashtan
Published online: March 2012
Molecular Genetics of Congenital Adrenal Hyperplasia
Silvia Parajes, Nils Krone
Published online: March 2012
Protein Disorder and Human Genetic Disease
Vladimir N Uversky, Lilia M Iakoucheva, A Keith Dunker
Published online: February 2012
Genetics of Silver–Russell Syndrome
Thomas Eggermann
Published online: February 2012
Molecular Genetics of Rhabdomyosarcoma
Soledad Gallego, Jose Sanchez De Toledo, Josep Roma
Published online: February 2012
Tuberous Sclerosis: Genetics
Andrew R Tee, Julian R Sampson, D Mark Davies
Published online: January 2012
Molecular Genetics of Williams–Beuren Syndrome
Giuseppe Merla, Lucia Micale, Carmela Fusco, Maria Nicla Loviglio
Published online: January 2012
Molecular Genetics of Tourette Syndrome
Antoinette Valenti, Marco Grados
Published online: January 2012
Molecular Genetics of Coeliac Disease
Vanisha Mistry, David van Heel
Published online: December 2011
Molecular Genetics of Pulmonary Hypertension
Laura Southgate, Rajiv D Machado
Published online: December 2011
Multiple Sclerosis (MS): Genetics
DA Dyment, GC Ebers
Published online: December 2011
Albinism: Genetics
William S Oetting
Published online: December 2011
Metabolism: Hereditary Errors
Leif Groop, Anders Rosengren
Published online: December 2011
Severe Combined Immune Deficiency (SCID): Genetics
A Fischer
Published online: November 2011
Malignant Hyperthermia and Central Core Disease
Tommie V McCarthy
Published online: November 2011
Genetic Imprinting in the Prader–Willi and Angelman Syndromes
Fiorella Gurrieri, Eugenio Sangiorgi
Published online: November 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
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
Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies
Carmen Espinós
Published online: September 2011
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