Specific Genetic Disorders

Back to Genetics & Disease
Pub Date A-Z
Gaucher Disease
Dominique P Germain
Published online: September 2009
Haemoglobin Disorders: Gene Therapy
Derek A Persons, Arthur W Nienhuis
Published online: September 2009
Lipoproteins: Genetic Disorders
Anne K Soutar
Published online: September 2009
Deafness
Alessandro Terrinoni, Gerry Melino, Valeria Serra, Marco Alessandrini, Bianca Napolitano, Ernesto Bruno
Published online: September 2009
Haemophilias: Gene Therapy
Michael Callaghan, Randal J Kaufman
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
Molecular Genetics of Chronic Pancreatitis
Richard Szmola, David C Whitcomb
Published online: March 2009
Molecular Genetics of Inherited Disorders of Epidermal Keratins
Eli Sprecher
Published online: March 2009
Molecular Genetics of Usher Syndrome
Hannie Kremer, Erwin van Wijk
Published online: March 2009
Coffin–Lowry Syndrome
André Hanauer
Published online: March 2009
Smith–Magenis Syndrome
Sarah H Elsea, Brenda Finucane
Published online: March 2009
The Molecular Genetics of Schwannomatosis
Theo JM Hulsebos
Published online: March 2009
Disorders with Synuclein Pathology and Parkinsonism
Laura L Kilarski, Vladimir L Buchman, Huw R Morris
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
Eye Disorders: Hereditary
Josseline Kaplan, Jean‐Michel Rozet
Published online: December 2008
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 Familial Mediterranean Fever
Levon Yepiskoposyan, Ashot Harutyunyan
Published online: December 2008
Listings: back...   81-100   101-120   121-140   141-160   more...