Suchergebnis | Hamburg Open Science

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4 Einträge gefunden

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia
2016 - Forschungsinformationssystem des UKE
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
2015 - Forschungsinformationssystem des UKE
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
2011 - Forschungsinformationssystem des UKE
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
2010 - Forschungsinformationssystem des UKE