Specific Genetic Disorders

Pub Date A-Z
Cornification Diseases (Skin Cell Death)
E Candi, WH McLean, B Didona, A Terrinoni, G Melino
Published online: December 2009
Lipoproteins: Genetic Disorders
Anne K Soutar
Published online: September 2009
Haemophilias: Gene Therapy
Michael Callaghan, Randal J Kaufman
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
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
Gaucher Disease
Dominique P Germain
Published online: September 2009
Molecular Genetics of Hereditary Spastic Paraplegias
Giuseppe Novelli, Gianmarco Contino
Published online: September 2009
Deafness
Alessandro Terrinoni, Gerry Melino, Valeria Serra, Marco Alessandrini, Bianca Napolitano, Ernesto Bruno
Published online: September 2009
Molecular Genetics of Chronic Pancreatitis
Richard Szmola, David C Whitcomb
Published online: March 2009
Coffin–Lowry Syndrome
André Hanauer
Published online: March 2009
Disorders with Synuclein Pathology and Parkinsonism
Laura L Kilarski, Vladimir L Buchman, Huw R Morris
Published online: March 2009
Molecular Genetics of Inherited Disorders of Epidermal Keratins
Eli Sprecher
Published online: March 2009
Smith–Magenis Syndrome
Sarah H Elsea, Brenda Finucane
Published online: March 2009
Genotype–Phenotype Relationships
David J Weatherall
Published online: March 2009
The Aetiologic Spectrum of Cerebellar Ataxia: Inherited Causes of Ataxia
Peter K Todd, J Paul Taylor
Published online: March 2009
Molecular Genetics of von Willebrand Disease
Derrick John Bowen
Published online: December 2008
Molecular Genetics of Inherited Hypophosphataemias
Armando Luis Negri
Published online: December 2008
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