G. Hammersen

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Francesca Pasutto, Heinrich Sticht, G. Hammersen et al. · The American Journal of Human Genetics · 2007 · 358 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +8

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit Budde, Yasmin Namavar, P. G. Barth et al. · Nature Genetics · 2008 · 251 citations

Genetic Disorder, Natural Sciences, Genetics +5

The Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria): Case Reports of 23 New Patients

K. Michael Gibson, Ernst Christensen, Cornelis Jakobs et al. · PEDIATRICS · 1997 · 142 citations · Full text

A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy

Christian Kranz, Christoph Jungeblut, Jonas Denecke et al. · The American Journal of Human Genetics · 2007 · 103 citations · Full text

Developmental Biology, Biochemistry, Genetic Disorder +8

Newborn screening for galactosemia and other galactose metabolic defects

Harvey L. Levy, G. Hammersen · The Journal of Pediatrics · 1978 · 100 citations

Newborn Screening, Neonatology, Diabetes +6