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A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.
Clin Genet. 2022 May;101(5-6):565-570. doi: 10.1111/cge.14126. Epub 2022 Mar 13.
Clin Genet. 2022.
PMID: 35229282
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Bertoli-Avella A, Hotakainen R, Al Shehhi M, Urzi A, Pareira C, Marais A, Al Shidhani K, Aloraimi S, Morales-Torres G, Fisher S, Demuth L, Moteleb Selim LA, Al Menabawy N, Busehail M, AlShaikh M, Gilani N, Chalabi DN, Alharbi NS, Alfadhel M, Abdelrahman M, Venselaar H, Anjum N, Saeed A, Alghamdi MA, Aljaedi H, Arabi H, Karageorgou V, Khan S, Hajjari Z, Radefeldt M, Al-Ali R, Tripolszki K, Jamhawi A, Paknia O, Cozma C, Cheema H, Ameziane N, Al-Muhsen S, Bauer P.
Bertoli-Avella A, et al. Among authors: radefeldt m.
J Med Genet. 2022 Oct;59(10):993-1001. doi: 10.1136/jmedgenet-2021-108150. Epub 2021 Dec 24.
J Med Genet. 2022.
PMID: 34952832
Free PMC article.
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The Inhibitory Response to PI3K/AKT Pathway Inhibitors MK-2206 and Buparlisib Is Related to Genetic Differences in Pancreatic Ductal Adenocarcinoma Cell Lines.
Ma Y, Sender S, Sekora A, Kong W, Bauer P, Ameziane N, Al-Ali R, Krake S, Radefeldt M, Weiss FU, Lerch MM, Parveen A, Zechner D, Junghanss C, Murua Escobar H.
Ma Y, et al. Among authors: radefeldt m.
Int J Mol Sci. 2022 Apr 13;23(8):4295. doi: 10.3390/ijms23084295.
Int J Mol Sci. 2022.
PMID: 35457111
Free PMC article.
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Inhibitory Response to CK II Inhibitor Silmitasertib and CDKs Inhibitor Dinaciclib Is Related to Genetic Differences in Pancreatic Ductal Adenocarcinoma Cell Lines.
Ma Y, Sender S, Sekora A, Kong W, Bauer P, Ameziane N, Krake S, Radefeldt M, Al-Ali R, Weiss FU, Lerch MM, Parveen A, Zechner D, Junghanss C, Murua Escobar H.
Ma Y, et al. Among authors: radefeldt m.
Int J Mol Sci. 2022 Apr 16;23(8):4409. doi: 10.3390/ijms23084409.
Int J Mol Sci. 2022.
PMID: 35457227
Free PMC article.
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A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Shamseldin HE, Sadagopan M, Martini J, Al-Ali R, Radefeldt M, Ataei M, Lemke S, Rahbeeni Z, Al Mutairi F, Ababneh F, AlRukban HA, Abdulwahab F, Alhajj SM, Bauer P, Bertoli-Avella A, Alkuraya FS.
Shamseldin HE, et al. Among authors: radefeldt m.
Hum Genet. 2023 Oct;142(10):1491-1498. doi: 10.1007/s00439-023-02597-3. Epub 2023 Sep 1.
Hum Genet. 2023.
PMID: 37656279
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Rapid Large-Scale COVID-19 Testing During Shortages.
Beetz C, Skrahina V, Förster TM, Gaber H, Paul JJ, Curado F, Rolfs A, Bauer P, Schäfer S, Weckesser V, Lieu V, Radefeldt M, Pöppel C, Krake S, Kandaswamy KK, Bruesehafer K, Vogel F.
Beetz C, et al. Among authors: radefeldt m.
Diagnostics (Basel). 2020 Jul 8;10(7):464. doi: 10.3390/diagnostics10070464.
Diagnostics (Basel). 2020.
PMID: 32650631
Free PMC article.
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The HROC-Xenobank-A High Quality Assured PDX Biobank of >100 Individual Colorectal Cancer Models.
Matschos S, Bürtin F, Kdimati S, Radefeldt M, Krake S, Prall F, Engel N, Krohn M, Micheel B, Kreutzer M, Mullins CS, Linnebacher M.
Matschos S, et al. Among authors: radefeldt m.
Cancers (Basel). 2021 Nov 23;13(23):5882. doi: 10.3390/cancers13235882.
Cancers (Basel). 2021.
PMID: 34884989
Free PMC article.
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Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients.
Radefeldt M, Stellmacher-Kaiser S, Krake S, Kragl B, Lemke S, Beetz C, Bauer P, Junghanß C, Al-Ali R.
Radefeldt M, et al.
Life (Basel). 2023 Nov 28;13(12):2274. doi: 10.3390/life13122274.
Life (Basel). 2023.
PMID: 38137875
Free PMC article.
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