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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.
Genes (Basel). 2021 Jun 7;12(6):879. doi: 10.3390/genes12060879.
Genes (Basel). 2021.
PMID: 34200361
Free PMC article.
Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.
Grünert SC, Matysiak U, Hodde F, Ruzaike G, Lausch E, Schumann A, van der Werf-Grohmann N, Spiekerkoetter U, Schmidts M.
Grünert SC, et al. Among authors: ruzaike g.
Diagnostics (Basel). 2021 Apr 22;11(5):749. doi: 10.3390/diagnostics11050749.
Diagnostics (Basel). 2021.
PMID: 33922271
Free PMC article.
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Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B.
Petersen BS, et al. Among authors: ruzaike g.
Inflamm Bowel Dis. 2017 Dec;23(12):2109-2120. doi: 10.1097/MIB.0000000000001235.
Inflamm Bowel Dis. 2017.
PMID: 28930861
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Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants.
Pastor V, Hirabayashi S, Karow A, Wehrle J, Kozyra EJ, Nienhold R, Ruzaike G, Lebrecht D, Yoshimi A, Niewisch M, Ripperger T, Göhring G, Baumann I, Schwarz S, Strahm B, Flotho C, Skoda RC, Niemeyer CM, Wlodarski MW.
Pastor V, et al. Among authors: ruzaike g.
Leukemia. 2017 Mar;31(3):759-762. doi: 10.1038/leu.2016.342. Epub 2016 Nov 23.
Leukemia. 2017.
PMID: 27876779
No abstract available.
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A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.
Cammarata-Scalisi F, Matysiak U, Willoughby CE, Ruzaike G, Cárdenas Tadich A, Araya Castillo M, Zara-Chirinos C, Bracho A, Avendaño A, Jilani H, Callea M.
Cammarata-Scalisi F, et al. Among authors: ruzaike g.
J Pediatr Genet. 2021 Jul 26;12(4):339-341. doi: 10.1055/s-0041-1732474. eCollection 2023 Dec.
J Pediatr Genet. 2021.
PMID: 38162154
Free PMC article.
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In vitro and in vivo generation of heterophil extracellular traps after Salmonella exposure.
Pieper J, Locke M, Ruzaike G, Voigt S, Methner U, Berndt A.
Pieper J, et al. Among authors: ruzaike g.
Vet Immunol Immunopathol. 2017 Jun;188:1-11. doi: 10.1016/j.vetimm.2017.04.008. Epub 2017 Apr 24.
Vet Immunol Immunopathol. 2017.
PMID: 28615122
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