Friedmar R. Kreuz

Apparent genotype–phenotype correlation in childhood, adolescent, and adult Chediak‐Higashi syndrome

Mohammad A. Karim, Koji Suzuki, Kazuyoshi Fukai et al. · American Journal of Medical Genetics · 2002 · 188 citations

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Matthis Synofzik, Anne S. Soehn, Janina Gburek‐Augustat et al. · Orphanet Journal of Rare Diseases · 2013 · 188 citations · Full text

High frequency of partial <i>SPAST</i> deletions in autosomal dominant hereditary spastic paraplegia

Christian Beetz, Anders O.H. Nygren, Jörg Schickel et al. · Neurology · 2006 · 138 citations

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

Seval Türkmen, Gabriele Gillessen‐Kaesbach, Peter Meinecke et al. · European Journal of Human Genetics · 2003 · 129 citations · Full text

Biology, Sotos Syndrome, Developmental Biology +9

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias

Andreas Dalski, Jassemien Atici, Friedmar R. Kreuz et al. · European Journal of Human Genetics · 2004 · 101 citations · Full text

Inherited Ataxias, Mendelian Disorder, Genetic Disorder +9