Specific Genetic Disorders

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Pub Date A-Z
Molecular Genetics of the α‐Thalassaemias
Patricia Aguilar‐Martinez, Béatrice Gulbis
Published online: September 2010
Molecular Genetics of Emery–Dreifuss Muscular Dystrophy
Glenn E Morris, Caroline A Sewry, Manfred Wehnert
Published online: September 2010
Molecular Genetics of Hereditary Spastic Paraplegias
Giovanni Stevanin
Published online: September 2010
Immunodeficiency, Primary: Affecting the Adaptive Immune System
Mauno Vihinen
Published online: September 2010
Modifier Genes in the Haemoglobinopathies
Rosalba Di Marzo, Roberta Calzolari, Deborah Rund, Aurelio Maggio
Published online: September 2010
Genetics of Retinal Disease
Peter J Francis
Published online: September 2010
Tuberous Sclerosis Complex and the Mammalian Target of Rapamycin Pathways
Jane Yu
Published online: September 2010
Neurofibromatosis Type 2 Clinics and Genetics
Lan Kluwe, Victor‐F Mautner
Published online: September 2010
LDL Receptor and Its Role in Inherited Disease
Anne K Soutar
Published online: September 2010
Molecular Genetics of Parkinsonism
Suzanne Lesage, Alexis Brice
Published online: May 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
Thalassaemias
David J Weatherall
Published online: April 2010
Molecular Genetics of Myocardial Infarction
Yoshiji Yamada
Published online: February 2010
Vitamin B12: Disorders of Absorption and Metabolism
David Watkins, David S Rosenblatt
Published online: February 2010
Cornification Diseases (Skin Cell Death)
E Candi, WH McLean, B Didona, A Terrinoni, G Melino
Published online: December 2009
OPA1 and Its Clinical Implications
Eva Trevisson, Leonardo Salviati, Luca Scorrano
Published online: December 2009
Neurofibromatosis Type I (NF1)
David Viskochil
Published online: September 2009
Apoptosis: Inherited Disorders
Helen C Su, Michael J Lenardo
Published online: September 2009
Molecular Genetics of Predisposition to Respiratory Disorders in Newborn
Tivadar Tulassay, Andras Treszl, Barna Vasarhelyi
Published online: September 2009
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