Maria B. Tan-Sindhunata

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

Life Sciences, Genetics, Molecular Genetics +4

Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype

Mirjam H.H. van Roij, Shuji Mizumoto, Shuhei Yamada et al. · American Journal of Medical Genetics Part A · 2008 · 54 citations

Medicine, Genetics, Molecular Genetics +17

Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita

Jill K. Tjon, Maria B. Tan-Sindhunata, Marianna Bugiani et al. · Fetal Diagnosis and Therapy · 2021 · 20 citations · Full text

Medicine, Obstetrics, Pediatrics +14

Prenatal diagnosis in two cases of <i>de novo</i> complex balanced chromosomal rearrangements. Three‐year follow‐up in one case

Birgit Sikkema‐Raddatz, Rolf H. Sijmons, Maria B. Tan-Sindhunata et al. · Prenatal Diagnosis · 1995 · 17 citations

Life Sciences, Genetics, Molecular Genetics +17