Genetics & Disease

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254 matches found in topic Genetics & Disease
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Limb Development Anomalies: Genetics
Sylvie Manouvrier‐Hanu, Petit Florence, Muriel Holder‐Espinasse, Fabienne Escande‐Narducci
Published online: January 2012
Molecular Genetics of Williams–Beuren Syndrome
Giuseppe Merla, Lucia Micale, Carmela Fusco, Maria Nicla Loviglio
Published online: January 2012
Metabolism: Hereditary Errors
Leif Groop, Anders Rosengren
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
Molecular Genetics of Pulmonary Hypertension
Laura Southgate, Rajiv D Machado
Published online: December 2011
Molecular Genetics of Coeliac Disease
Vanisha Mistry, David van Heel
Published online: December 2011
Plant Storage Products (Carbohydrates, Oils and Proteins)
Allison R Kermode
Published online: November 2011
Titin Gene (TTN)
Siegfried Labeit, Julius Bogomolovas, Dietmar Labeit, Henk Granzier
Published online: November 2011
Genetic Imprinting in the Prader–Willi and Angelman Syndromes
Fiorella Gurrieri, Eugenio Sangiorgi
Published online: November 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
Genetics of the Autosomal Dominant Spinocerebellar Ataxias
Marc Corral‐Juan, Jordi Corral, Héctor San Nicolás, Victor Volpini, Antoni Matilla‐Dueñas
Published online: October 2011
Chronic Myeloproliferative Neoplasms: Clinical and Molecular Genetics
Maher Albitar
Published online: October 2011
Retrotransposons and Human Disease
Astrid M Roy‐Engel, Victoria P Belancio
Published online: September 2011
Colour Vision Defects
Maureen Neitz, Katherine Mancuso, Jay Neitz
Published online: September 2011
Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies
Carmen Espinós
Published online: September 2011
Noonan Syndrome
Marco Tartaglia, Bruce D Gelb
Published online: September 2011
Cardiofaciocutaneous (CFC) Syndrome
Ellen Denayer, Eric Legius
Published online: September 2011
Capillary Malformation–Arteriovenous Malformation and RASA1 Mutations
Laurence M Boon, Nicole Revencu, Miikka Vikkula
Published online: September 2011
Alternative Splicing: Role of Pseudoexons in Human Genetic Disease
Buratti Emanuele
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
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