Anneke Maat‐Kievit

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

Őzgür Sancak, Mark Nellist, Miriam Goedbloed et al. · European Journal of Human Genetics · 2005 · 481 citations

Tuberous Sclerosis Complex, Molecular Diagnostic Techniques, Diagnostic Dna Techniques +10

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

John C. van Swieten, Esther Brusse, Bianca M. de Graaf et al. · The American Journal of Human Genetics · 2003 · 291 citations · Full text

Mendelian Disorder, Brain Development, Genetic Disorder +7

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

C. T. R. M. Schrander‐Stumpel, Peter Meinecke, Golder N. Wilson et al. · European Journal of Pediatrics · 1994 · 116 citations

Medicine, Further Delineation, Pathology +2

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

Esther Brusse, Inge de Koning, Anneke Maat‐Kievit et al. · Movement Disorders · 2005 · 115 citations

New Phenotype, Neurological Disorder, Corticobasal Degeneration +18