Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Upstream Open Reading Frames and Human Genetic Disease
Cristina Barbosa, Cláudia Onofre, Luísa Romão
Published online: August 2014
Syndromes and Diseases Associated with the Notch Signalling Pathway
Peter D Turnpenny
Published online: August 2014
Histidine Triad (HIT) Superfamily
Charles Brenner
Published online: August 2014
Molecular Mechanisms Underlying Pathogenic Missense Mutations
Bohua Wu, Julia Eggert, Emil Alexov
Published online: August 2014
Genetics of PTEN Hamartoma Tumour Syndrome
Robert T Pilarski
Published online: July 2014
Molecular Genetics of Paget's Disease of Bone
Luigi Gennari, Fernando Gianfrancesco, Domenico Rendina, Daniela Merlotti
Published online: July 2014
Molecular Genetics of Congenital Diaphragmatic Hernia
Mauro Longoni, Meaghan K Russell, Barbara R Pober
Published online: July 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 Human Facial Dysostoses
Johanna Christina Czeschik, Dagmar Wieczorek
Published online: June 2014
Molecular Genetics of Holt–Oram Syndrome
Phil Barnett, Alex V Postma
Published online: June 2014
Autosomal Mutations and Spermatogenic Failure
Ana C Lima, Alexandra M Lopes
Published online: June 2014
Molecular Genetics of Mantle Cell Lymphoma
Alba Navarro, Sílvia Beà
Published online: June 2014
Genetics of Pain Insensitivity
Michael S Nahorski, Edward C Emery, C Geoffrey Woods
Published online: May 2014
Molecular Genetics of Congenital Myasthenic Syndromes
Kinji Ohno, Bisei Ohkawara, Mikako Ito, Andrew G Engel
Published online: May 2014
Molecular Genetics of X‐linked Adrenoleukodystrophy
Stephan Kemp
Published online: May 2014
Molecular Genetics of Argininosuccinic Aciduria
Eva Trevisson, Mara Doimo, Leonardo Salviati
Published online: May 2014
Molecular Genetics of Cohesinopathies
José L Barbero
Published online: March 2014
Developmental Syndromes of Ras/MAPK Pathway Dysregulation
Alexsandra C Malaquias, Alexander AL Jorge
Published online: March 2014
Molecular Genetics of Dystrophinopathies
Alessandra Ferlini, Marcella Neri
Published online: March 2014
Vitelline Macular Dystrophy
C George Priya Doss, Aditi S Kumar, Vaishnavi Narayan
Published online: February 2014
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