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

by Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts
Published 2021-06-01

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

by Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts
Published 2019-02-01

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

by Maryam Najafi, Maryam Najafi, Dor Mohammad Kordi Tamandani, Anoush Azarfar, Zeineb Bakey, Zeineb Bakey, Farkhondeh Behjati, Dinu Antony, Dinu Antony, Isabel Schüle, Simin Sadeghi-Bojd, Ehsan Ghayoor Karimiani, Ehsan Ghayoor Karimiani, Miriam Schmidts, Miriam Schmidts
Published 2019-03-01