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Academic Journal

Diagnostic strategy for inherited hypomagnesemia.

Subjects: GENETIC counseling; HYPOMAGNESEMIA; NUCLEOTIDE sequence

  • Source: Clinical & Experimental Nephrology; Dec2017, Vol. 21 Issue 6, p1003-1010, 8p

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Academic Journal

Clinical spectrum of male patients with OFD1 mutations.

  • Authors : Sakakibara N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.; Morisada N

Subjects: Mutation*; Orofaciodigital Syndromes/Orofaciodigital Syndromes/Orofaciodigital Syndromes/*genetics ; Orofaciodigital Syndromes/Orofaciodigital Syndromes/Orofaciodigital Syndromes/*pathology Orofaciodigital syndrome type1

  • Source: Journal of human genetics [J Hum Genet] 2019 Jan; Vol. 64 (1), pp. 3-9. Date of Electronic Publication: 2018 Nov 06.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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