Nicolai Kohlschmidt

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

Mira Kyttälä, Jonna Tallila, Riitta Salonen et al. · Nature Genetics · 2006 · 252 citations

Signal Transduction, Developmental Biology, Mendelian Disorder +7

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

Christian P. Kratz, Lude Franke, Harm Peters et al. · British Journal of Cancer · 2015 · 207 citations · Full text

Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD)

Karolin Stegmann, Andreas Ziegler, Ernestine T. K. M. Ngo et al. · American Journal of Medical Genetics · 1999 · 125 citations

Genetics, Genetic Epidemiology, Human Polymorphism +19

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment

Sonja C. Stadler, Roman Polanetz, Esther M. Maier et al. · Human Mutation · 2006 · 89 citations

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

M. T. Romano, Aylar Tafazzoli, Maximilian Mattern et al. · The American Journal of Human Genetics · 2018 · 76 citations · Full text

Bi-allelic Mutations, Allelic Variant, Mendelian Disorder +8