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JOURNAL OF HUMAN GENETICS
Rivista
Codice:
E184296
ISSN:
1435-232X
Dati Generali
Dati Generali
Pubblicazioni (3)
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
Articolo
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.
Articolo
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.
Articolo
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