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Year | Number of Results |
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2019 | 1 |
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Page 1
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Brain. 2021 Mar 3;144(2):574-583. doi: 10.1093/brain/awaa418.
Brain. 2021.
PMID: 33459760
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB.
Park J, et al. Among authors: rupprich k.
J Med Genet. 2020 Apr;57(4):283-288. doi: 10.1136/jmedgenet-2019-106273. Epub 2019 Aug 22.
J Med Genet. 2020.
PMID: 31439721
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Further evidence for POMK as candidate gene for WWS with meningoencephalocele.
Paul L, Rupprich K, Della Marina A, Stein A, Elgizouli M, Kaiser FJ, Schweiger B, Köninger A, Iannaccone A, Hehr U, Kölbel H, Roos A, Schara-Schmidt U, Kuechler A.
Paul L, et al. Among authors: rupprich k.
Orphanet J Rare Dis. 2020 Sep 9;15(1):242. doi: 10.1186/s13023-020-01454-0.
Orphanet J Rare Dis. 2020.
PMID: 32907597
Free PMC article.
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Paraneoplastic hypercalcemia associated with juvenile granulosa cell tumor.
Rupprich K, Wimberger P, Wieland R, Eggert A, Grabellus F, Schneider DT, Wulff B.
Rupprich K, et al.
Klin Padiatr. 2013 May;225(3):170-1. doi: 10.1055/s-0033-1337975. Epub 2013 Mar 21.
Klin Padiatr. 2013.
PMID: 23519754
No abstract available.
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