Mutational Mechanisms of Genetic Disease

Pub Date A-Z
Molecular Genetics of the Neuronal Ceroid Lipofuscinoses
Sara E Mole
Published online: January 2014
Molecular Genetics of Primary Ciliary Dyskinesia
Amjad Horani, Thomas W Ferkol
Published online: December 2013
Synonymous Mutations as a Cause of Human Genetic Disease
Zuben E Sauna, Chava Kimchi‐Sarfaty
Published online: December 2013
Molecular Genetics of Saethre–Chotzen Syndrome
Irene MJ Mathijssen
Published online: December 2013
Genotype–Phenotype Relationship in Hereditary Hemochromatosis
Lachlan RO Ayres, Vanoo Jayasekeran, John K Olynyk
Published online: December 2013
CFTR: The CF Gene and Its Regulation in Physiology and Disease
Wayne IL Davies
Published online: December 2013
Molecular Genetics of LEOPARD Syndrome
Efrén Martínez‐Quintana, Fayna Rodríguez‐González
Published online: November 2013
Meckel Syndrome and Related Disorders
Valeska Frank, Carsten Bergmann
Published online: November 2013
A‐to‐I RNA Editing and Human Genetic Disease
Stefan Maas
Published online: September 2013
Molecular Genetics of Aniridia
Melanie Hingorani
Published online: September 2013
Molecular Genetics of Nasopharyngeal Carcinoma
Samantha Wei‐Man Lun, Chartia Ching‐Mei Cheung, Chit Chow, Grace Tin‐Yun Chung, Kwok‐Wai Lo
Published online: September 2013
Genetics of Phosphate Regulation Disorders
Jyothsna Gattineni
Published online: September 2013
Macrophage Function Disorders
Keith M Lee, Charles Yin, Chris P Verschoor, Dawn ME Bowdish
Published online: September 2013
Application of Exome Sequencing to Mendelian Disorders and the Emergence of Personalised Medicine
Mikolaj M Raszek
Published online: September 2013
Molecular Genetics of Skeletal Muscle Channelopathies
Siobhan CM Durran, Emma Matthews, Michael Hanna
Published online: September 2013
Molecular Genetics of Hypobetalipoproteinaemia and Abetalipoproteinaemia
Amanda J Hooper, John R Burnett
Published online: September 2013
Molecular Genetics of Chediak–Higashi Syndrome
Jerry Kaplan, Diane M Ward
Published online: September 2013
Essential Genes and Human Genetic Disease
Kathryn E Hentges
Published online: September 2013
Molecular Genetics of Barth Syndrome
Atsuhito Takeda
Published online: September 2013
Forkhead Transcription Factors in Genetic Disease
Dorien Baetens, Hannah Verdin, Martine Cools, Elfride De Baere
Published online: September 2013
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