Zenker M - Search Results

1

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).

Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN. Eggermann T, et al. Among authors: zenker m. Orphanet J Rare Dis. 2020 Jun 8;15(1):144. doi: 10.1186/s13023-020-01420-w. Orphanet J Rare Dis. 2020. PMID: 32513286 Free PMC article. Review.

2

Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.

Mohnike K, Wieland I, Barthlen W, Vogelgesang S, Empting S, Mohnike W, Meissner T, Zenker M. Mohnike K, et al. Among authors: zenker m. Horm Res Paediatr. 2014;81(3):156-68. doi: 10.1159/000356905. Epub 2014 Jan 7. Horm Res Paediatr. 2014. PMID: 24401662 Clinical Trial.

3

Surgery in Focal Congenital Hyperinsulinism (CHI) - The "Hyperinsulinism Germany International" Experience in 30 Children.

Barthlen W, Varol E, Empting S, Wieland I, Zenker M, Mohnike W, Vogelgesang S, Mohnike K. Barthlen W, et al. Among authors: zenker m. Pediatr Endocrinol Rev. 2016 Dec;14(2):129-137. doi: 10.17458/PER.2016.BVE.Surgeryinfocal. Pediatr Endocrinol Rev. 2016. PMID: 28508606

4

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network.

Heard JM, Vrinten C, Schlander M, Bellettato CM, van Lingen C, Scarpa M; MetabERN collaboration group. Heard JM, et al. Orphanet J Rare Dis. 2020 Jan 6;15(1):3. doi: 10.1186/s13023-019-1280-5. Orphanet J Rare Dis. 2020. PMID: 31907071 Free PMC article.

5

Unusual phenotypes in patients with a pathogenic germline variant in DICER1.

Venger K, Elbracht M, Carlens J, Deutz P, Zeppernick F, Lassay L, Kratz C, Zenker M, Kim J, Stewart DR, Wieland I, Schultz KAP, Schwerk N, Kurth I, Kontny U. Venger K, et al. Among authors: zenker m. Fam Cancer. 2023 Oct;22(4):475-480. doi: 10.1007/s10689-021-00271-z. Epub 2021 Jul 31. Fam Cancer. 2023. PMID: 34331184 Free PMC article.

6

Management of cardiac aspects in children with Noonan syndrome - results from a European clinical practice survey among paediatric cardiologists.

Wolf CM, Zenker M, Burkitt-Wright E, Edouard T, García-Miñaúr S, Lebl J, Shaikh G, Tartaglia M, Verloes A, Östman-Smith I. Wolf CM, et al. Among authors: zenker m. Eur J Med Genet. 2022 Jan;65(1):104372. doi: 10.1016/j.ejmg.2021.104372. Epub 2021 Oct 28. Eur J Med Genet. 2022. PMID: 34757052 Free article.

7

European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.

García-Miñaúr S, Burkitt-Wright E, Verloes A, Shaikh G, Lebl J, Östman-Smith I, Wolf CM, Ortega Castelló E, Tartaglia M, Zenker M, Edouard T. García-Miñaúr S, et al. Among authors: zenker m. Eur J Med Genet. 2022 Jan;65(1):104371. doi: 10.1016/j.ejmg.2021.104371. Epub 2021 Oct 29. Eur J Med Genet. 2022. PMID: 34757053 Free article.

8

Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.

Weber S, Büscher AK, Hagmann H, Liebau MC, Heberle C, Ludwig M, Rath S, Alberer M, Beissert A, Zenker M, Hoyer PF, Konrad M, Klein HG, Hoefele J. Weber S, et al. Among authors: zenker m. Pediatr Nephrol. 2016 Jan;31(1):73-81. doi: 10.1007/s00467-015-3167-6. Epub 2015 Aug 7. Pediatr Nephrol. 2016. PMID: 26248470

9

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.

Hauer NN, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dörr HG, Thiel CT. Hauer NN, et al. Among authors: zenker m. Sci Rep. 2017 Sep 22;7(1):12225. doi: 10.1038/s41598-017-12465-6. Sci Rep. 2017. PMID: 28939912 Free PMC article.

10

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT. Hauer NN, et al. Among authors: zenker m. Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29758562 Free PMC article.

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