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Human Mutation|August 31, 2006
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaquesCecile Dumanchin, Isabelle Tournier, Cosette Martin, et al.
Human Mutation|August 31, 2006
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophyMichael Linnebank, Alexander Semmler, Wim J Kleijer, et al.
Human Mutation|September 22, 2006
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastomaFrancisco Sánchez-Sánchez, Carmen Ramírez-Castillejo, Daniel B Weekes, et al.
Human Mutation|September 16, 2006
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationshipsElena Botta, Judith Offman, Tiziana Nardo, et al.
Human Mutation|October 17, 2006
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative casesLorne Lonie, Daniel E Porter, Maria Fraser, et al.
Human Mutation|July 11, 2008
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardationVera M Kalscheuer, Luciana Musante, Cheng Fang, et al.
Human Mutation|July 16, 2008
Validation of microarray-based resequencing of 93 worldwide mitochondrial genomesAnne Hartmann, Marian Thieme, Lahiri K Nanduri, et al.
Human Mutation|October 30, 2007
Myocilin allele-specific glaucoma phenotype databaseAlex W Hewitt, David A Mackey, Jamie E Craig
Human Mutation|July 22, 2008
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndromeDiane Beysen, Sarah De Jaegere, David Amor, et al.
Human Mutation|June 23, 2006
MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22qJ A S Vorstman, G R Jalali, E F Rappaport, et al.
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