22q11 syndrom Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
    -
    www.frambu.no/diagnoser
    /
    ... Coffin-Lowrys syndrom Hunters sykdom (MPS II) Kromosom 22Q11-syndrom Turners syndrom Neuropathy, ataxia and retinitis pigmentosa Polynevropatier, ... nevronal ceroid lipofuscinose Krabbes ... 22Q11-syndrom Kromosom XXX Kromosomavvik, svært sjeldne som gir sammensatte ...
  2. Frambu
    -
    www.frambu.no
    /
    ... Coffin-Lowrys syndrom Hunters sykdom (MPS II) Kromosom 22Q11-syndrom Turners syndrom Neuropathy, ataxia and retinitis pigmentosa Polynevropatier, ...
  3. bmj-bestpractice
    -
    bestpractice.bmj.com/topics/en-gb/947/pdf/947.pdf
    /
    ... 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 ...
  4. bmj-bestpractice
    -
    bestpractice.bmj.com/topics/en-gb/947/references
    /
    ... 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 ...
  5. nokc-helsebiblioteket-collection
    -
    www.helsebiblioteket.no/.../aktuelt/sjeldne-sykdommer-test
    /
    ... sykdom starter et søk i Helsebibliotekets søkemotor. ABCDEFGHIJKLMNOPQRSTUVWXYZÆØÅ 22q11 syndrom 22q13 syndrom 47 XXX 47 XXY syndrom 47 ...
  6. bmj-bestpractice
    -
    bestpractice.bmj.com/topics/en-gb/947/history-exam
    /
    ... 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- ...
  7. bmj-bestpractice
    -
    bestpractice.bmj.com/topics/en-gb/947/diagnosis-approach
    /
    ... 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- ...
  8. bmj-bestpractice
    -
    bestpractice.bmj.com/topics/en-gb/947/complications
    /
    ... disorder, and depression. [55] Bassett AS, Chow EW. 22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry. 1999; ... et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A. 2005;138A:307- ...
  9. bmj-bestpractice
    -
    bestpractice.bmj.com/topics/en-gb/947/aetiology
    /
    ... Val158Met genotype on executive function in patients with 22q11 deletion syndrome. Am J Psychiatry. 2006;163:537-539. http:// ... BA, et al. Antibody deficiency in adults with 22q11.2 deletion syndrome. Am J Med Genet A. 2012;158A:1934- ...
  10. bmj-bestpractice
    -
    bestpractice.bmj.com/topics/en-gb/947/investigations
    /
    ... al. Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome. Int J Pediatr Otorhinolaryngol. 2012;76:1726-1728. ... N, Davidson SJ, Wong D, et al. Predicting 22q11.2 deletion syndrome: a novel method using the routine full blood ...
forrige · 1 · 2 · 3 · neste