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Page 1
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.
Genes (Basel). 2021 Jun 7;12(6):879. doi: 10.3390/genes12060879.
Genes (Basel). 2021.
PMID: 34200361
Free PMC article.
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
Najafi M, Riedhammer KM, Rad A, Torbati PN, Berutti R, Schüle I, Schroda S, Meitinger T, Ćomić J, Bojd SS, Baranzehi T, Shojaei A, Azarfar A, Khazaei MR, Köttgen A, Backofen R, Karimiani EG, Hoefele J, Schmidts M.
Najafi M, et al. Among authors: schule i.
Front Pediatr. 2022 Sep 22;10:974840. doi: 10.3389/fped.2022.974840. eCollection 2022.
Front Pediatr. 2022.
PMID: 36245711
Free PMC article.
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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.
Najafi M, Kordi-Tamandani DM, Behjati F, Sadeghi-Bojd S, Bakey Z, Karimiani EG, Schüle I, Azarfar A, Schmidts M.
Najafi M, et al. Among authors: schule i.
Orphanet J Rare Dis. 2019 Feb 13;14(1):41. doi: 10.1186/s13023-018-0981-5.
Orphanet J Rare Dis. 2019.
PMID: 30760291
Free PMC article.
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Acceleration of antimicrobial susceptibility testing of positive blood cultures by inoculation of Vitek 2 cards with briefly incubated solid medium cultures.
Idelevich EA, Schüle I, Grünastel B, Wüllenweber J, Peters G, Becker K.
Idelevich EA, et al. Among authors: schule i.
J Clin Microbiol. 2014 Nov;52(11):4058-62. doi: 10.1128/JCM.02400-14. Epub 2014 Aug 27.
J Clin Microbiol. 2014.
PMID: 25165084
Free PMC article.
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A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East.
Najafi M, Tamandani DMK, Azarfar A, Bakey Z, Behjati F, Antony D, Schüle I, Sadeghi-Bojd S, Karimiani EG, Schmidts M.
Najafi M, et al. Among authors: schule i.
Front Pediatr. 2019 Mar 21;7:89. doi: 10.3389/fped.2019.00089. eCollection 2019.
Front Pediatr. 2019.
PMID: 30949462
Free PMC article.
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