Specific Genetic Disorders

Pub Date A-Z
Lipoproteins: Genetic Disorders
Anne K Soutar
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 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
Neurofibromatosis Type I (NF1)
David Viskochil
Published online: September 2009
Gaucher Disease
Dominique P Germain
Published online: September 2009
Molecular Genetics of Predisposition to Respiratory Disorders in Newborn
Tivadar Tulassay, Andras Treszl, Barna Vasarhelyi
Published online: September 2009
The Aetiologic Spectrum of Cerebellar Ataxia: Inherited Causes of Ataxia
Peter K Todd, J Paul Taylor
Published online: March 2009
Smith–Magenis Syndrome
Sarah H Elsea, Brenda Finucane
Published online: March 2009
Molecular Genetics of Inherited Disorders of Epidermal Keratins
Eli Sprecher
Published online: March 2009
Coffin–Lowry Syndrome
André Hanauer
Published online: March 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
Intellectual Disability: Genetics
Samantha JL Knight
Published online: December 2008
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
Eye Disorders: Hereditary
Josseline Kaplan, Jean‐Michel Rozet
Published online: December 2008
Deafness: Hereditary
Jean‐Pierre Hardelin, Jacqueline Levilliers, Christine Petit
Published online: July 2008
Inherited Muscle Disease: Gene Therapy
Terence Partridge
Published online: September 2007
Rett Syndrome
Margaret K Bradbury, Kristen C Hoffbuhr, Eric P Hoffman
Published online: September 2007
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