N. Apeshiotis

Phenotypic spectrum associated with <i>CASK</i> loss-of-function mutations

Ute Moog, Kerstin Kutsche, Fanny Kortüm et al. · Journal of Medical Genetics · 2011 · 138 citations

Life Sciences, Genetics, Medical Genetics +10

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

Nina Rind, Verena Schmeiser, Christian Thiel et al. · Human Molecular Genetics · 2010 · 59 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip

Christian Thiel, Nina Rind, Diana Popovici et al. · Human Mutation · 2011 · 36 citations

Life Sciences, Biochemistry, Genetics +17

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

Roser Ufartes, Hanna Berger, Katharina Till et al. · Human Genetics · 2020 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17