Lausch E - Search Results

1

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.

Semler O, Cormier-Daire V, Lausch E, Bober MB, Carroll R, Sousa SB, Deyle D, Faden M, Hartmann G, Huser AJ, Legare JM, Mohnike K, Rohrer TR, Rutsch F, Smith P, Travessa AM, Verardo A, White KK, Wilcox WR, Hoover-Fong J. Semler O, et al. Among authors: lausch e. Adv Ther. 2024 Jan;41(1):198-214. doi: 10.1007/s12325-023-02705-9. Epub 2023 Oct 26. Adv Ther. 2024. PMID: 37882884 Free PMC article.

2

Acanthocytosis: a key feature for the diagnosis of abetalipoproteinemia.

Lausch E, Yoshimi A. Lausch E, et al. Blood. 2023 Jun 29;141(26):3231. doi: 10.1182/blood.2023020260. Blood. 2023. PMID: 37382999 Free article. No abstract available.

3

Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.

Zieger B, Boeckelmann D, Anani W, Falet H, Zhu J, Glonnegger H, Full H, Andresen F, Erlacher M, Lausch E, Fels S, Strahm B, Lang P, Hoffmeister KM. Zieger B, et al. Among authors: lausch e. Thromb Haemost. 2022 Jul;122(7):1139-1146. doi: 10.1055/s-0041-1742207. Epub 2022 Jan 20. Thromb Haemost. 2022. PMID: 35052006 Free PMC article.

4

Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts.

Chabronova A, van den Akker GGH, Meekels-Steinbusch MMF, Friedrich F, Cremers A, Surtel DAM, Peffers MJ, van Rhijn LW, Lausch E, Zabel B, Caron MMJ, Welting TJM. Chabronova A, et al. Among authors: lausch e. Noncoding RNA Res. 2021 Dec 12;6(4):211-224. doi: 10.1016/j.ncrna.2021.12.003. eCollection 2021 Dec. Noncoding RNA Res. 2021. PMID: 34988338 Free PMC article.

5

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation.

Schnause AC, Komlosi K, Herr B, Neesen J, Dremsek P, Schwarz T, Tzschach A, Jägle S, Lausch E, Fischer J, Gläser B. Schnause AC, et al. Among authors: lausch e. Genes (Basel). 2021 Nov 21;12(11):1836. doi: 10.3390/genes12111836. Genes (Basel). 2021. PMID: 34828442 Free PMC article.

6

Screening for hypophosphatasia: does biochemistry lead the way?

Held CM, Guebelin A, Krebs A, Sass JO, Wurm M, Lausch E, van der Werf-Grohmann N, Schwab KO. Held CM, et al. Among authors: lausch e. J Pediatr Endocrinol Metab. 2021 Sep 22;35(2):169-178. doi: 10.1515/jpem-2021-0104. Print 2022 Feb 23. J Pediatr Endocrinol Metab. 2021. PMID: 34551461

7

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.

Getwan M, Hoppmann A, Schlosser P, Grand K, Song W, Diehl R, Schroda S, Heeg F, Deutsch K, Hildebrandt F, Lausch E, Köttgen A, Lienkamp SS. Getwan M, et al. Among authors: lausch e. Proc Natl Acad Sci U S A. 2021 Sep 28;118(39):e2106770118. doi: 10.1073/pnas.2106770118. Proc Natl Acad Sci U S A. 2021. PMID: 34548398 Free PMC article.

8

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.

Schüle I, Berger U, Matysiak U, Ruzaike G, Stiller B, Pohl M, Spiekerkoetter U, Lausch E, Grünert SC, Schmidts M. Schüle I, et al. Among authors: lausch e. Genes (Basel). 2021 Jun 7;12(6):879. doi: 10.3390/genes12060879. Genes (Basel). 2021. PMID: 34200361 Free PMC article.

9

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.

Grünert SC, Matysiak U, Hodde F, Ruzaike G, Lausch E, Schumann A, van der Werf-Grohmann N, Spiekerkoetter U, Schmidts M. Grünert SC, et al. Among authors: lausch e. Diagnostics (Basel). 2021 Apr 22;11(5):749. doi: 10.3390/diagnostics11050749. Diagnostics (Basel). 2021. PMID: 33922271 Free PMC article.

10

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.

Härter B, Benedicenti F, Karall D, Lausch E, Schweigmann G, Stanzial F, Superti-Furga A, Scholl-Bürgi S. Härter B, et al. Among authors: lausch e. Mol Genet Genomic Med. 2020 Jun;8(6):e1203. doi: 10.1002/mgg3.1203. Epub 2020 Mar 20. Mol Genet Genomic Med. 2020. PMID: 32196989 Free PMC article.

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