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  • 1-10 of  15 results for ""MISSENSE mutation""

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Academic Journal

Recurrent and founder mutations in the Netherlands.

  • Source: Netherlands Heart Journal; Feb2010, Vol. 18 Issue 2, p85-89, 5p

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Academic Journal

Clinical, biochemical and genetic findings in two patients with dihydropyrimidinase deficiency.

  • Source: Tijdschrift Voor Kindergeneeskunde; Feb2013 Supplement, Vol. 81, p87-87, 1p

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Academic Journal

Chemical chaperones improve peroxisomal biogenesis in fibroblasts of mild Zellweger syndrome spectrum patients.

  • Source: Tijdschrift Voor Kindergeneeskunde; Feb2013 Supplement, Vol. 81, p21-21, 1p

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Academic Journal

Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?

  • Source: Netherlands Heart Journal; Dec2009, Vol. 17 Issue 12, p458-463, 6p

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Academic Journal

Pregnancy and the risk of torsades de pointes in congenital long-QT syndrome.

  • Source: Netherlands Heart Journal; Dec2008, Vol. 16 Issue 12, p422-425, 4p

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Academic Journal

The many faces of aggressive aortic pathology: Loeys-Dietz syndrome.

  • Source: Netherlands Heart Journal; Sep2008, Vol. 16 Issue 9, p299-304, 6p

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Academic Journal

Chronische recurrente multifocale osteomyelitis; een relatief Bohn Stafleu van Loghume entiteit.

  • Source: Tijdschrift Voor Kindergeneeskunde; Jun2006, Vol. 74 Issue 3, p147-151, 5p

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Academic Journal

Een kwestie van komen en gaan: neurologische aandoeningen ten gevolge van ionkanaalmutaties.

  • Source: Tijdschrift Voor Kindergeneeskunde; Apr2006, Vol. 74 Issue 2, p97-103, 7p

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Academic Journal

glut1-deficiëntie: een diagnose die makkelijk gemist wordt.

  • Source: Tijdschrift Voor Kindergeneeskunde; Jun2004, Vol. 72 Issue 3, p106-109, 4p

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Academic Journal

Afwijkingen in fagocyten.

  • Source: Tijdschrift Voor Kindergeneeskunde; Dec2002, Vol. 70 Issue 6, p29-35, 7p

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  • 1-10 of  15 results for ""MISSENSE mutation""