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Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales.

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Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.

American journal of human genetics·2002

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Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

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Developmental reorganization of functional and structural connectivity in children's language networks is consistent with interactive specialization.

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Possible localization of a major gene for cleft lip and palate to 4q

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Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations.

Multiclonal outbreak of methicillin-resistant Staphylococcus aureus infections on a collegiate football team.

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.

Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.

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Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.

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