Elisabeth Steichen

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 253 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Association of TALS Developmental Disorder with Defect in Minor Splicing Component <i>U4atac</i> snRNA

Patrick Edery, Charles Marcaillou, Mourad Sahbatou et al. · Science · 2011 · 227 citations

Life Sciences, Molecular Biology, Molecular Genetics +16

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 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

New p57 KIP2 mutations in Beckwith-Wiedemann syndrome

I. Hatada, Akira Nabetani, Hiroko Morisaki et al. · Human Genetics · 1997 · 94 citations

Life Sciences, Genetics, Molecular Genetics +5

Young Children Have Higher Variability of Insulin Requirements: Observations During Hybrid Closed-Loop Insulin Delivery

Klemen Dovč, Charlotte K. Boughton, Martin Tauschmann et al. · Diabetes Care · 2019 · 93 citations · Full text

Medicine, Endocrinology, Pediatrics +16