Isabel Schüle

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati et al. · Orphanet Journal of Rare Diseases · 2019 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

Isabel Schüle, Urs V. Berger, Uta Matysiak et al. · Genes · 2021 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases

Maryam Najafi, Korbinian M. Riedhammer, Abolfazl Rad et al. · Frontiers in Pediatrics · 2022 · 11 citations · Full text

Medicine, Genetics, Pediatrics +17