Isabel Schule
Freiburg, BW, Germany
Last Updated: 09/26/2026
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Found 8 publications
Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects.
Journal: Communications biology
Published: July 04, 2022
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
Journal: Frontiers in pediatrics
Published: June 21, 2022
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.
Journal: Genes
Published: May 04, 2021
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East.
Journal: Frontiers in pediatrics
Published: November 06, 2018
Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.
Journal: Kidney international reports
Published: June 24, 2018
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.
Journal: Orphanet journal of rare diseases
Published: June 23, 2018
Acceleration of antimicrobial susceptibility testing of positive blood cultures by inoculation of Vitek 2 cards with briefly incubated solid medium cultures.
Journal: Journal of clinical microbiology
Published: August 29, 2014
Rapid identification of microorganisms from positive blood cultures by MALDI-TOF mass spectrometry subsequent to very short-term incubation on solid medium.
Journal: Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
Published: December 20, 2013
Showing 1-8 of 8
Last Updated: 09/26/2026