Schaper J - Search Results

1

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement.

Le Duc D, Horn S, Jamra RA, Schaper J, Wieczorek D, Redler S. Le Duc D, et al. Among authors: schaper j. Eur J Med Genet. 2020 Feb;63(2):103649. doi: 10.1016/j.ejmg.2019.04.006. Epub 2019 Apr 12. Eur J Med Genet. 2020. PMID: 30986545

2

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.

Redler S, Strom TM, Wieland T, Cremer K, Engels H, Distelmaier F, Schaper J, Küchler A, Lemke JR, Jeschke S, Schreyer N, Sticht H, Koch M, Lüdecke HJ, Wieczorek D. Redler S, et al. Among authors: schaper j. Eur J Hum Genet. 2017 Jun;25(7):889-893. doi: 10.1038/ejhg.2017.52. Epub 2017 Apr 19. Eur J Hum Genet. 2017. PMID: 28422131 Free PMC article.

3

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

Kim JH, Park EY, Chitayat D, Stachura DL, Schaper J, Lindstrom K, Jewett T, Wieczorek D, Draaisma JM, Sinnema M, Hoeberigs C, Hempel M, Bachman KK, Seeley AH, Stone JK, Kong HK, Vukadin L, Richard A, Shinde DN, McWalter K, Si YC, Douglas G, Lim ST, Vissers LELM, Lemaire M, Ahn EE. Kim JH, et al. Among authors: schaper j. Kidney Int. 2019 Jun;95(6):1494-1504. doi: 10.1016/j.kint.2019.01.025. Epub 2019 Mar 15. Kidney Int. 2019. PMID: 31005274 Free PMC article.

4

Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.

Filatova A, Rey LK, Lechler MB, Schaper J, Hempel M, Posmyk R, Szczaluba K, Santen GWE, Wieczorek D, Nuber UA. Filatova A, et al. Among authors: schaper j. Nat Commun. 2019 Jul 4;10(1):2966. doi: 10.1038/s41467-019-10849-y. Nat Commun. 2019. PMID: 31273213 Free PMC article.

5

QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.

Föhrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, Schaper J, Surowy H, Zenker M, Zweier C, Wieczorek D, Redler S. Föhrenbach M, et al. Among authors: schaper j. Clin Genet. 2021 Jan;99(1):199-207. doi: 10.1111/cge.13853. Epub 2020 Nov 10. Clin Genet. 2021. PMID: 33009816

6

Phenotype diversity associated with TP63 mutations.

Schmetz A, Xiong X, Cesarato N, Basmanav FB, Gierthmuehlen P, Schaper J, Schlieper D, Wehner M, Thiele H, Frank J, Betz RC, Redler S. Schmetz A, et al. Among authors: schaper j. J Dtsch Dermatol Ges. 2022 Jun;20(6):872-875. doi: 10.1111/ddg.14770. Epub 2022 May 20. J Dtsch Dermatol Ges. 2022. PMID: 35593033 No abstract available.

7

Phänotypische Vielfalt bei Varianten im TP63-Gen.

Schmetz A, Xiong X, Cesarato N, Basmanav FB, Gierthmuehlen P, Schaper J, Schlieper D, Wehner M, Thiele H, Frank J, Betz RC, Redler S. Schmetz A, et al. Among authors: schaper j. J Dtsch Dermatol Ges. 2022 Jun;20(6):871-875. doi: 10.1111/ddg.14770_g. J Dtsch Dermatol Ges. 2022. PMID: 35711055 No abstract available.

8

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

Schmetz A, Schaper J, Thelen S, Rana M, Klenzner T, Schaumann K, Beygo J, Surowy H, Lüdecke HJ, Wieczorek D. Schmetz A, et al. Among authors: schaper j. Genes (Basel). 2023 Mar 15;14(3):724. doi: 10.3390/genes14030724. Genes (Basel). 2023. PMID: 36980996 Free PMC article.

9

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.

Classen S, Goecke T, Drechsler M, Betz B, Nickel N, Beier M, Schaper J, Karenfort M, Royer-Pokora B. Classen S, et al. Among authors: schaper j. Am J Med Genet A. 2013 Jun;161A(6):1453-8. doi: 10.1002/ajmg.a.35904. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633430

10

Mandibular aneurysmal bone cyst in a child misdiagnosed as acute osteomyelitis: a case report and a review of the literature.

Breuer C, Paul H, Zimmermann A, Braunstein S, Schaper J, Mayatepek E, Oh J. Breuer C, et al. Among authors: schaper j. Eur J Pediatr. 2010 Aug;169(8):1037-40. doi: 10.1007/s00431-010-1138-2. Epub 2010 Jan 27. Eur J Pediatr. 2010. PMID: 20107833 Review.

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