Diederich S - Search Results

1

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].

Schröder JC, Läßig AK, Galetzka D, Peters A, Castle JC, Diederich S, Zechner U, Müller-Forell W, Keilmann A, Bartsch O. Schröder JC, et al. Among authors: diederich s. Behav Brain Funct. 2013 Feb 18;9:7. doi: 10.1186/1744-9081-9-7. Behav Brain Funct. 2013. PMID: 23419067 Free PMC article.

2

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Komlosi K, Diederich S, Fend-Guella DL, Bartsch O, Winter J, Zechner U, Beck M, Meyer P, Schweiger S. Komlosi K, et al. Among authors: diederich s. Orphanet J Rare Dis. 2018 Jan 26;13(1):23. doi: 10.1186/s13023-018-0763-0. Orphanet J Rare Dis. 2018. PMID: 29373990 Free PMC article.

3

NDST1 missense mutations in autosomal recessive intellectual disability.

Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K. Reuter MS, et al. Among authors: diederich s. Am J Med Genet A. 2014 Nov;164A(11):2753-63. doi: 10.1002/ajmg.a.36723. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25125150

4

The DNA methylation profile of human spermatogonia at single-cell- and single-allele-resolution refutes its role in spermatogonial stem cell function and germ cell differentiation.

Fend-Guella DL, von Kopylow K, Spiess AN, Schulze W, Salzbrunn A, Diederich S, El Hajj N, Haaf T, Zechner U, Linke M. Fend-Guella DL, et al. Among authors: diederich s. Mol Hum Reprod. 2019 Jun 6;25(6):283-294. doi: 10.1093/molehr/gaz017. Mol Hum Reprod. 2019. PMID: 30892608

5

Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis.

Ries M, Mendoza G, Arash-Kaps L, Amraoui Y, Quack F, Hardt B, Diederich S, Beck M, Mengel E. Ries M, et al. Among authors: diederich s. Genet Med. 2022 Dec;24(12):2434-2443. doi: 10.1016/j.gim.2022.09.001. Epub 2022 Oct 4. Genet Med. 2022. PMID: 36194207 Free article.

6

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

Arash-Kaps L, Komlosi K, Seegräber M, Diederich S, Paschke E, Amraoui Y, Beblo S, Dieckmann A, Smitka M, Hennermann JB. Arash-Kaps L, et al. Among authors: diederich s. J Pediatr. 2019 Dec;215:152-157.e3. doi: 10.1016/j.jpeds.2019.08.016. J Pediatr. 2019. PMID: 31761138

7

First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.

Stingl JV, Diederich S, Diel H, Schuster AK, Wagner FM, Chronopoulos P, Aghayeva F, Grehn F, Winter J, Schweiger S, Hoffmann EM. Stingl JV, et al. Among authors: diederich s. J Clin Med. 2021 Dec 21;11(1):16. doi: 10.3390/jcm11010016. J Clin Med. 2021. PMID: 35011756 Free PMC article.

8

Imaging beyond RECIST: CT and MRI in molecular therapies.

Diederich S. Diederich S. Cancer Imaging. 2012 Sep 28;12(2):347-50. doi: 10.1102/1470-7330.2012.9013. Cancer Imaging. 2012. PMID: 23023112 Free PMC article. Review.

9

Chest CT for suspected pulmonary complications of oncologic therapies: how I review and report.

Diederich S. Diederich S. Cancer Imaging. 2016 Apr 11;16:7. doi: 10.1186/s40644-016-0066-4. Cancer Imaging. 2016. PMID: 27067027 Free PMC article.

10

Consensus report on the radiological management of patients with gastrointestinal stromal tumours (GIST): recommendations of the German GIST Imaging Working Group.

Kalkmann J, Zeile M, Antoch G, Berger F, Diederich S, Dinter D, Fink C, Janka R, Stattaus J; German GIST Imaging Working Group. Kalkmann J, et al. Among authors: diederich s. Cancer Imaging. 2012 May 7;12(1):126-35. doi: 10.1102/1470-7330.2012.0013. Cancer Imaging. 2012. PMID: 22572545 Free PMC article.

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