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Selected research
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Protocol for handling and using SOD1 mice for amyotrophic lateral sclerosis pre-clinical studies.
STAR protocols
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MGA loss-of-function variants cause premature ovarian insufficiency.
The Journal of clinical investigation
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Recurrent Xp22.31-Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families.
American journal of medical genetics. Part A