Eveline W Blom

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

Eva Klopocki, Bianca P. Hennig, Katarina Dathe et al. · The American Journal of Human Genetics · 2010 · 142 citations · Full text

Point Mutations, Genetics, Molecular Biology +2

Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Irina Zaharieva, Michael G. Thor, Emily C. Oates et al. · Brain · 2015 · 120 citations · Full text

Congenital Myopathy, Muscle Function, Genetics +29

Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: Detection by MLPA and breakpoint mapping by SNP array analysis

Servi J.C. Stevens, Eric Smeets, Eveline W Blom et al. · American Journal of Medical Genetics Part A · 2009 · 73 citations

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

Maria B. Tan-Sindhunata, Inge B. Mathijssen, Margriet Smit et al. · European Journal of Human Genetics · 2014 · 54 citations · Full text

Developmental Anomaly, Somatic Variant, Genetic Disorder +6

Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare <i>GNAS1</i> mutation

Merel Klaassens, Eveline W Blom, J. J. P. Schrander et al. · British Journal of Dermatology · 2009 · 17 citations