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Isabel Schüle
Isabel Schüle
Genetics
Biology
Exome sequencing
Copy-number variation
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4
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36
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A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.
2021
Genes
Isabel Schüle
Urs Berger
Uta Matysiak
Gunda Ruzaike
Brigitte Stiller
Martin Pohl
Ute Spiekerkoetter
Ekkehart Lausch
Sarah C. Grünert
Miriam Schmidts
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A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East
2019
Frontiers in Pediatrics
Maryam Najafi
Dor Mohammad Kordi-Tamandani
Anoush Azarfar
Zeineb Bakey
Farkhondeh Behjati
Dinu Antony
Isabel Schüle
Simin Sadeghi-Bojd
Ehsan Ghayoor Karimiani
Miriam Schmidts
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Citations (1)
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
2019
Orphanet Journal of Rare Diseases
Maryam Najafi
Dor Mohammad Kordi-Tamandani
Farkhondeh Behjati
Simin Sadeghi-Bojd
Zeineb Bakey
Ehsan Ghayoor Karimiani
Isabel Schüle
Anoush Azarfar
Miriam Schmidts
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Citations (7)
Acceleration of Antimicrobial Susceptibility Testing of Positive Blood Cultures by Inoculation of Vitek 2 Cards with Briefly Incubated Solid Medium Cultures
2014
Journal of Clinical Microbiology
Evgeny A. Idelevich
Isabel Schüle
B. Grünastel
Jörg Wüllenweber
Georg Peters
Karsten Becker
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Citations (28)
1