Specific Genetic Disorders

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Pub Date A-Z
Molecular Genetics of Inherited Hypophosphataemias
Armando Luis Negri
Published online: December 2008
Deafness: Hereditary
Jean‐Pierre Hardelin, Jacqueline Levilliers, Christine Petit
Published online: July 2008
Disorders of Cholesterol Biosynthesis, Genetics of
Carrie A Phillipi, Robert D Steiner
Published online: May 2008
Inherited Neuromuscular Disease
Toby A Ferguson, David R Lynch
Published online: May 2008
Rett Syndrome
Margaret K Bradbury, Kristen C Hoffbuhr, Eric P Hoffman
Published online: September 2007
Inherited Muscle Disease: Gene Therapy
Terence Partridge
Published online: September 2007
Chromosome 1
Peter S White
Published online: September 2007
Inherited Disorders of Glycosylation
Susan E Sparks
Published online: September 2007
Insights into the Molecular Basis of Kallman Syndrome
Youli Hu, Soo‐Hyun Kim, Steven Mark Cadman, Pierre‐Marc Bouloux
Published online: September 2007
Lissencephaly, Genetics of
Sandrine Passemard, François Challard, Alain Verloes, Pierre Gressens
Published online: September 2007
Bardet‐Biedl Syndrome, an Oligogenic Disease
Yangfan Liu, Norann A Zaghloul, Nicholas Katsanis
Published online: September 2007
Facioscapulohumeral Muscular Dystrophy: Genetics
Meena Upadhyaya
Published online: September 2007
The Fragile X Syndrome
Laetitia Davidovic, Barthélémy Tournier, Edouard W Khandjian
Published online: July 2007
Leber Hereditary Optic Neuropathy (LHON)
Liesbeth Spruijt
Published online: July 2007
Fetal Diagnosis
Wolfgang Holzgreve, Susanne Mergenthaler‐Gatfield, Sinuhe Hahn
Published online: July 2007
Diabetes Mellitus: Gene Therapy
Andreea R Barbu, Nils Welsh
Published online: July 2007
Chromosome 2
Christopher N Vlangos, Friedhelm Hildebrandt
Published online: July 2007
Chromosome 10
Theologia Sarafidou, Nicholas K Moschonas
Published online: July 2007
Ornithine Transcarbamylase Deficiency: Genetics
Luísa Azevedo, António Amorim
Published online: July 2007
Retinitis Pigmentosa
Quansheng Xi, Qiuyun Chen, Qing Wang
Published online: July 2007
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