Marinesco-sjögrens syndrom Treff i utvalgte kilder: [Skjul boksen]
  1. Frambu
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    www.frambu.no/marinesco-sjgrens-syndrom
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    Marinesco-Sjögrens syndrom (MSS) er en arvelig, fremadskridende sykdom med fordunkling av øyets linse (grå stær), balanseusikkerhet og koordinasjonsvansker ( ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1097/pdf/1097.pdf
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    ... double-strand break repair process. [ 20] • Considered rare. Marinesco-Sjogren syndrome • The mutation involves the gene SIL 1, involved ... axonal neuropathy (SCAN1), ataxia telangiectasia-like disorder (ATLD), Marinesco-Sjogren syndrome, and the miscellaneous ataxias will not be discussed ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1097/aetiology
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    ... ataxias. Continuum. 2005;11:115-142. Considered rare. Marinesco-Sjogren syndrome The mutation involves the gene SIL 1, involved ... axonal neuropathy (SCAN1), ataxia telangiectasia-like disorder (ATLD), Marinesco-Sjogren syndrome, and the miscellaneous ataxias will not be discussed ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1097/pdf/1097.pdf
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    ... double-strand break repair process. [ 20] • Considered rare. Marinesco-Sjogren syndrome • The mutation involves the gene SIL 1, involved ... genetic disorders in others. Note: IOSCA, SCAN1, ATLD, Marinesco-Sjogren syndrome, and the miscellaneous ataxias will not be discussed ...
  5. Frambu
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    www.frambu.no/diagnoser
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    ... Diekers syndrom Limb-girdle muskeldystrofi Arvelig spastisk paraparese Marinesco-Sjögrens syndrom Mukolipidose type 1 Myoklonisk epilepsi med ragged-red ...
  6. Frambu
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    www.frambu.no
    /
    ... Diekers syndrom Limb-girdle muskeldystrofi Arvelig spastisk paraparese Marinesco-Sjögrens syndrom Mukolipidose type 1 Myoklonisk epilepsi med ragged-red ...