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Results 1 - 10 of 14 for siblings
  1. ... disease. This mutation has been reported in two siblings with the disease. The mutation replaces the amino ... associated with Parkinson's disease: a case-unaffected sibling and case-unrelated control study. Neurosci Lett. 2005 ...
  2. ... the TCN2 gene: a study of two affected siblings, their brother, and their parents. J Inherit Metab ...
  3. ... ascending spastic paralysis with bulbar involvement in two siblings. Clin Genet. 2003 Sep;64(3):210-5. ...
  4. ... Stepien KM. Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations. Mol ...
  5. ... mutation of the thyroid peroxidase gene in three siblings. Clin Endocrinol (Oxf). 2003 Aug;59(2):198- ...
  6. ... childhood. Affected individuals may be shorter than their siblings. Another condition caused by variants in the COL2A1 ...
  7. ... novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br J Haematol. 2004 ...
  8. ... AM. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. Mol Genet Metab. 2007 ...
  9. ... BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. J Inherit Metab Dis. 2013 Jan;36(1): ...
  10. ... Momoi MY. MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of ...
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