Mutational Mechanisms of Genetic Disease

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Pub Date A-Z
Molecular Genetics of Nail–Patella Syndrome
Iain McIntosh
Published online: November 2012
Molecular Genetics of Simpson‐Golabi‐Behmel Syndrome Type 1
Mahin Golabi, Alva Leung
Published online: November 2012
Molecular Genetics of CHARGE Syndrome
Conny M A van Ravenswaaij‐Arts, Lies H Hoefsloot
Published online: November 2012
Molecular Genetics of Myelodysplastic Syndromes
Rafael Bejar, David P Steensma
Published online: November 2012
Molecular Biology of Small Heat Shock Proteins associated with Peripheral Neuropathies
Anne Holmgren, Delphine Bouhy, Vincent Timmerman
Published online: November 2012
Molecular Genetics of Ehlers–Danlos Syndrome
Karin Mayer
Published online: November 2012
Molecular Genetics of Familial Cerebral Cavernous Malformations
Alexander Dru, Justin Eales, Nikolay L Martirosyan, Raza Mushtaq, Daniel D Cavalcanti, M Yashar S Kalani, Joseph M Zabramski, Robert F Spetzler, Mark C Preul
Published online: November 2012
Molecular Genetics of Incontinentia Pigmenti
Matilde Valeria Ursini, Matilde Immacolata Conte, Alessandra Pescatore, Maria Giuseppina Miano, Francesca Fusco
Published online: October 2012
Plakin Proteins, Hemidesmosomes and Human Disease
Martyn Chidgey
Published online: October 2012
Molecular Genetics of Galactosaemia
Kent Lai, Anna Marabotti, Rong Mao
Published online: October 2012
Molecular Genetics of Cystinuria
Thomas Eggermann
Published online: October 2012
Genetics of SHOX Deficiency
Mariana FA Funari, Mirian Y Nishi, Renata C Scalco, Alexander AL Jorge
Published online: July 2012
Cilia and Human Disease
Alison J Albee, Susan K Dutcher
Published online: July 2012
Cellular Basis of Laminopathies
Kan Cao
Published online: July 2012
Molecular Genetics of Malignant Mesothelioma
Yoshitaka Sekido
Published online: July 2012
Ribosomes and Ribosomal Proteins: More Than Just ‘Housekeeping’
Anirban Chakraborty, Naoya Kenmochi
Published online: July 2012
Molecular Genetics of Sarcoidosis
Manju Paul, Michael Iannuzzi
Published online: June 2012
Implications of RNA‐binding Proteins for Human Diseases
Kiven E Lukong, Rachid El Fatimy
Published online: May 2012
Molecular Genetics of Kabuki Syndrome
Lucia Micale, Giuseppe Merla
Published online: May 2012
Paroxysmal Nocturnal Hemoglobinuria
Taroh Kinoshita
Published online: April 2012
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