Hanne Hove

Prevalence, incidence, and age at diagnosis in Marfan Syndrome

Kristian A. Groth, Hanne Hove, Kasper Kyhl et al. · Orphanet Journal of Rare Diseases · 2015 · 198 citations · Full text

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Alexander Hoischen et al. · The American Journal of Human Genetics · 2015 · 135 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss, Hayley P. Lazar, Alina Kurolap et al. · Genetics in Medicine · 2019 · 97 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal et al. · American Journal of Medical Genetics Part A · 2015 · 94 citations · Full text

Short Stature, Genetics, Related Phenotype +22

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

Irfan Saadi, Fowzan S. Alkuraya, Stephen S. Gisselbrecht et al. · The American Journal of Human Genetics · 2011 · 89 citations · Full text

Developmental Biology, Oblique Facial Clefting, Protein Folding +11