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Mild orotic aciduria in UMPS heterozygotes: A metabolic finding without clinical consequences

Subjects: 0301 basic medicine; Male; medicine.medical_specialty

  • Source: J. Inherit. Metab. Dis. 40, 423-431 (2017)Journal of Inherited Metabolic Disease, 40, 423-431Journal of Inherited Metabolic DiseaseJournal of Inherited Metabolic Disease, 40, 3, pp.

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SOS2 and ACP1 loci identified through large-scale exome chip analysis regulate kidney development and function

Subjects: 0301 basic medicine; Nonsynonymous substitution; Nephrology

  • Source: J. Am. Soc. Nephrol. 28, 981-994 (2017)Journal of the American Society of Nephrology, 28(3), 981-994Li, M, Li, Y, Weeks, O, Mijatovic, V, Teumer, A, Huffman, J E, Tromp, G, Fuchsberger, C,

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Zahnanomalien in der neuropädiatrie

Subjects: Gynecology; medicine.medical_specialty; congenital, hereditary, and neonatal diseases and abnormalities

  • Source: Wolf, N 2007, ' Zahnanomalien in der neuropädiatrie ', Medizinische Genetik, vol. 19, no. 4, pp. 414-417 . https://doi.org/10.1007/s11825-007-0051-1Medizinische Genetik, 19(4), 414-417.

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