22q11 syndrom Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/diagnoser
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    ... Mitokondriesykdommer Coffin-Lowrys syndrom Hunters sykdom (MPS II) 22q11 syndrom Turners syndrom Neuropathy, ataxia and retinitis pigmentosa Polynevropatier, ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/947/guidelines
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    ... et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med. 2015;17: 599-609. http://www. ... 98] McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. In: Pagon RA, Adam MP, Ardinger HH, et ...
  3. Frambu
    -
    www.frambu.no
    /
    ... Mitokondriesykdommer Coffin-Lowrys syndrom Hunters sykdom (MPS II) 22q11 syndrom Turners syndrom Neuropathy, ataxia and retinitis pigmentosa Polynevropatier, ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/947/pdf/947.pdf
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    ... specific growth charts have now been developed for 22q11.2 syndrome. [ 37] [ 38] Growth failure is common in comparison ... Other tests In patients with suspected or confirmed 22q11.2 syndrome, it is crucial to define the extent of ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/947/pdf/947.pdf
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    ... specific growth charts have now been developed for 22q11.2 syndrome. [ 36] [ 37] Growth failure is common in comparison ... Other tests In patients with suspected or confirmed 22q11.2 syndrome it is crucial to define the extent of ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/947/references
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    ... M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch ... I, et al. Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome. Rev Med Chil. 2001;129:515-521. Abstract ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/947/references
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    ... I, et al. Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome. Rev Med Chil. 2001;129:515-521. Abstract ... Val158Met genotype on executive function in patients with 22q11 deletion syndrome. Am J Psychiatry. 2006;163:537-539. Full ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/947/history-exam
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    ... specific growth charts have now been developed for 22q11.2 syndrome. [37] Tarquinio DC, Jones MC, Jones KL, et al. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012;158A:2672- ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/947/history-exam
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    ... specific growth charts have now been developed for 22q11.2 syndrome. [36] Tarquinio DC, Jones MC, Jones KL, et al. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012;158A:2672- ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/947/diagnosis-approach
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    ... specific growth charts have now been developed for 22q11.2 syndrome. [37] Tarquinio DC, Jones MC, Jones KL, et al. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012;158A:2672- ...
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