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Material Type: Report
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Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomasSheppard, Sarah E ; Barrett, Brett ; Muraresku, Colleen ; McKnight, Heather ; De Leon, Diva D ; Lord, Katherine ; Ganetzky, RebeccaAmerican journal of medical genetics. Part A, 2021, Vol.185 (2), p.566-570Texto completo disponível |
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Material Type: Report
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Death notification education: A needs assessment studyStewart, Alan E. ; Lord, Janice Harris ; Mercer, Dorothy L.Journal of Traumatic Stress, 2001, Vol.14 (1), p.221-227Germantown: Periodicals Service CompanyTexto completo disponível |