Suchergebnis | Hamburg Open Science

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4 Einträge gefunden

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
2009 - Forschungsinformationssystem des UKE
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
2007 - Forschungsinformationssystem des UKE
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
2006 - Forschungsinformationssystem des UKE
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.
2005 - Forschungsinformationssystem des UKE