Showing 1 - 20 results of 341 for search 'C.', query time: 0.20s Refine Results
  1. 1
    by SHALBAFAN, Bita
    Published 2015
    ...How to Cite this Article: Shalbafan B. A Family Case Report of Niemman Pick C with New Mutation...
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  2. 2
    ... deficiency. Am J Hum Genet 1985; 37: 1-31.5. Hacke W, Doonnan G, Fieschi C, Kaste M, von Kummer R, Broderick...
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  3. 3
    ... 2017; 11(3):53-56. AbstractNiemann–Pick disease type C (NP-C) is a rare neurovisceral and irreversible...
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  4. 4
    ... randomly divided into five groups as follows (n=6 per group): control group without hypoxia (C1), control...
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    ...(HbA1c) level.Methods: The subjects were recruited prospectively upon initial evaluation at a tertiary...
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  7. 7
    ... of the Children Participation Assessment Scale in activities outside of School–Child version (CPAS-C) in 6-12-year...
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  8. 8
    ....AbstractObjectiveMany studies have supported the role of protein kinase C (PKC) inhibitors in the physiopathology...
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    ... of the disease are persistently high level of lactate, and C4–C5-acylcarnitines in blood, markedly elevated...
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  11. 11
    ... T to G substitution in c.7308-6 position resulting in a novel acceptor splice site in intron 49...
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  12. 12
    ..., we did genetic study for AOA1 that showed a homozygous frameshift mutation as c.418_418 del was found...
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  13. 13
    ... educational schedules. References1.C. Gordon Wells. Learning to talk: The pattern of Development. In: C...
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  14. 14
    by Vakili, Rahim, Hashemian, Somayyeh
    Published 2018
    ... assessment we detected a novel homozygous mutation c.664A> C (p. Ser 222 Arg) in ACAT gene. This is a...
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    ... epileptic syndrome. Epilepsia 1997;38(8):915-21.Bosemani T, Burton VJ, Felling RJ, Leigh R, Oakley C...
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  17. 17
    ... complex disease. Autoimmune Dis. 2010; 2011:932351.International Multiple Sclerosis Genetics C, Wellcome...
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  18. 18
    by RAI, Birendra, SHARIF, Farhana
    Published 2017
    .... Epidemiology of holoprosencephaly: Prevalence and risk factors. Am J Med Genet C Semin Med Genet 2010; 154C(1...
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  19. 19
    ... in the position C.2370 T>G (p. Y790X) in the PLA2G6 gene based on NM_001349864 which has been reported...
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  20. 20
    ... exome sequencing showednovel c.743_744delTCinsA mutation in the exon 4 of the PEX11β gene. In contrast...
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