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Harriet von Koskull

Helsinki University Central Hospital
University of Helsinki

43

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Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.

2008 American Journal of Medical Genetics Part A
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Basement membrane proteins in human amniotic fluid

2008 Clinical Genetics
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PAK3 related mental disability: further characterization of the phenotype.

2007 American Journal of Medical Genetics Part A
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Identification of antibodies against HAI-1 and integrin α6β4 as immunohistochemical markers of human villous cytotrophoblast

2006 Journal of Histochemistry and Cytochemistry
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Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

2003 American Journal of Human Genetics
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Prenatally detected trisomy 7 mosaicism in a dysmorphic child.

2002 Prenatal Diagnosis
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The use of transferrin for enrichment of fetal cells from maternal blood

2000 Prenatal Diagnosis
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Prenatally detected paternal uniparental chromosome 13 isodisomy

1998 Prenatal Diagnosis
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Maternal serum screening for Down's syndrome on population basis

1997 Acta Obstetricia et Gynecologica Scandinavica
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FRAXA locus in fragile X diagnosis: family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation.

1994 American Journal of Medical Genetics
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