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Material Type: Artigo
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Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiencyAmor, David J ; Marsh, Ashley P L ; Storey, Elsdon ; Tankard, Rick ; Gillies, Greta ; Delatycki, Martin B ; Pope, Kate ; Bromhead, Catherine ; Leventer, Richard J ; Bahlo, Melanie ; Lockhart, Paul JNeurology. Genetics, 2016-12, Vol.2 (6), p.e114-e114 [Periódico revisado por pares]United States: Wolters KluwerTexto completo disponível |
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Material Type: Artigo
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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 lossMarsh, Ashley P L ; Lukic, Vesna ; Pope, Kate ; Bromhead, Catherine ; Tankard, Rick ; Ryan, Monique M ; Yiu, Eppie M ; Sim, Joe C H ; Delatycki, Martin B ; Amor, David J ; McGillivray, George ; Sherr, Elliott H ; Bahlo, Melanie ; Leventer, Richard J ; Lockhart, Paul JNeurology. Genetics, 2015-08, Vol.1 (2), p.e16-e16 [Periódico revisado por pares]United States: Wolters KluwerTexto completo disponível |