Specific Genetic Disorders

Pub Date A-Z
LDL Receptor and Its Role in Inherited Disease
Anne K Soutar
Published online: September 2010
Genetics of Retinal Disease
Peter J Francis
Published online: September 2010
Modifier Genes in the Haemoglobinopathies
Rosalba Di Marzo, Roberta Calzolari, Deborah Rund, Aurelio Maggio
Published online: September 2010
Autosomal Dominant Polycystic Kidney Disease
M Amin Arnaout
Published online: September 2010
Genetic Basis of Monogenic Forms of Parkinson Disease
Kathrin Brockmann, Thomas Gasser
Published online: April 2010
Molecular Genetics of Ischaemic Stroke
Enrico Floßmann
Published online: April 2010
Molecular Genetics of Myocardial Infarction
Yoshiji Yamada
Published online: February 2010
OPA1 and Its Clinical Implications
Eva Trevisson, Leonardo Salviati, Luca Scorrano
Published online: December 2009
Haemophilias: Gene Therapy
Michael Callaghan, Randal J Kaufman
Published online: September 2009
Neurofibromatosis Type I (NF1)
David Viskochil
Published online: September 2009
Biallelic Germline Mutations of Mismatch‐Repair Genes and Paediatric Malignancies
Katharina Wimmer, Julia Etzler
Published online: September 2009
Molecular Genetics of Predisposition to Respiratory Disorders in Newborn
Tivadar Tulassay, Andras Treszl, Barna Vasarhelyi
Published online: September 2009
Lipoproteins: Genetic Disorders
Anne K Soutar
Published online: September 2009
Gaucher Disease
Dominique P Germain
Published online: September 2009
Molecular Genetics of Hereditary Spastic Paraplegias
Giuseppe Novelli, Gianmarco Contino
Published online: September 2009
Haemoglobin Disorders: Gene Therapy
Derek A Persons, Arthur W Nienhuis
Published online: September 2009
Apoptosis: Inherited Disorders
Helen C Su, Michael J Lenardo
Published online: September 2009
Genotype–Phenotype Relationships
David J Weatherall
Published online: March 2009
Molecular Genetics of Chronic Pancreatitis
Richard Szmola, David C Whitcomb
Published online: March 2009
Coffin–Lowry Syndrome
André Hanauer
Published online: March 2009
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