Lissencefali or "micro deletion syndromes" Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/lissencefali
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    Lissencefali betyr ”glatt hjerne”, og innebærer fortykket hjernekappe og mikroskopiske tegn på ufullstendig migrasjon av nervecellene. Det ...
  2. Frambu
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    www.frambu.no/diagnoser
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    ... ceroid lipofuscinose Dystrofia myotonika type 1 Arvelige ataksier Lissencefali Maroteaux-Lamys sykdom (MPS VI) Leukodystrofier PEO Hereditære ... syndrom Leukodystrofier LGMD LHON Limb-girdle muskeldystrofi LINCL Lissencefali Louis-Bars syndrom Mannosidose Marinesco-Sjögrens syndrom Maroteaux- ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/pdf/686.pdf
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    ... neurodevelopmental disorders encompassing severe brain malformation such as lissencephaly, early infantile epileptic encephalopathy without malformation, and syndromic ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/differentials
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    ... with dystonia may have migration abnormalities such as lissencephaly. metabolic work-up (e.g., urine organic acids ... with dystonia may have migration abnormalities such as lissencephaly. metabolic work-up (e.g., urine organic acids ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/686/pdf/686.pdf
    /
    ... neurodevelopmental disorders encompassing severe brain malformation such as lissencephaly, early infantile epileptic encephalopathy without malformation, and syndromic ...
  6. Frambu
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    www.frambu.no
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    ... ceroid lipofuscinose Dystrofia myotonika type 1 Arvelige ataksier Lissencefali Maroteaux-Lamys sykdom (MPS VI) Leukodystrofier PEO Hereditære ...
  7. Frambu
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    www.frambu.no/migrasjonsforstyrrelser
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    ... om at Nora har en migrasjonsforstyrrelse som heter lissencefali. Det innbærer varierende grad av utviklingshemning og motoriske ...
  8. Frambu
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    www.frambu.no/miller-diekers-syndrom
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    ... MDS) preges ofte av flere alvorlige misdannelser, klassisk lissencefali, et spesielt utseende, veksthemning, utviklingshemning og endringer i ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/686/aetiology
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    ... neurodevelopmental disorders encompassing severe brain malformation such as lissencephaly, early infantile epileptic encephalopathy without malformation, and syndromic ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/752/pdf/752.pdf
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    ... factor, particularly a neuronal migration disorder such as lissencephaly. X-linked Aicardi syndrome is a rare condition, ...
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