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Pressemitteilungen

GENETISCHE DIAGNOSTIK ULTRA-SELTENER ERKRANKUNGEN

22.07.2024

ERC FÖRDERT DIE ENTWICKLUNG VIELVERSPRECHENDER THERAPIEN VON NIERENERKRANKUNGEN

11.07.2024

ZUSAMMENHANG VON VIER SELTENEN KRANKHEITEN GEKLÄRT

01.07.2024

PRESSEMAPPE: GENOMISCHES NEUGEBORENENSCREENUNG - RISIKEN, HERAUSFORDERUNGEN UND CHANCEN

01.03.2024

Zum Archiv

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Neueste Publikationen

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.

Heimdörfer D, Vorleuter A, Eschlböck A, Spathopoulou A, Suarez-Cubero M, Farhan H, Reiterer V, Spanjaard M, Schaaf CP, Huber LA, Kremser L, Sarg B, Edenhofer F, Geley S, de Araujo MEG, Huettenhofer A.

Am J Hum Genet. 2024 Jul 11;111(7):1383-1404. doi: 10.1016/j.ajhg.2024.05.023. Epub 2024 Jun 21. PMID: 38908375; PMCID: PMC11267527, DOI: 10.1016/j.ajhg.2024.05.023

 

MAGEL2 (patho-)physiology and Schaaf-Yang syndrome

Schubert T, Schaaf CP.

Dev Med Child Neurol. 2024 Jul 1. doi: 10.1111/dmcn.16018. Epub ahead of print. PMID: 38950199, DOI: 10.1111/dmcn.16018

 

Comparative analysis of gene and disease selection in genomic newborn screening studies

Betzler IR, Hempel M, Mütze U, Kölker S, Winkler E, Dikow N, Garbade SF, Schaaf CP, Brennenstuhl H. 

J Inherit Metab Dis. 2024 May 16. doi: 10.1002/jimd.12750. Epub ahead of print. PMID: 38757337, DOI: 10.1002/jimd.12750

 

Comparative analysis of whole plant, flower and root extracts of Chamomilla recutita L. and characteristic pure compounds reveals differential anti-inflammatory effects on human T cells

Lairikyengbam D., Wetterauer B., Schmiech M., Jahraus B., Kirchgessner H., Wetterauer P., Berschneider K., Beier V., Niesler B., Balta E., Samstag Y. 

Frontiers in Immunology. 2024 Apr 24;15:1388962. PMID: 38720895, PMCID: PMC11077421, DOI: 10.3389/fimmu.2024.1388962

 

Clinical relevance of pathological diagnosis of Hirschsprung's disease with Acetylcholine-Esterase histochemistry or Calretinin immunohistochemistry

Romero P. Burger A., Wennberg E., Schmitteckert S., Holland-Cunz S., Schwab C., Günther P

Children. 2024 Apr. 3, PMID: 38671645, PMCID: PMC11049477, DOI: 10.3390/children11040428

 

Local patterns of genetic sharing challenge the boundaries between neuropsychiatric and insulin resistance-related conditions.

Fanelli G, Franke B, Fabbri C, Werme J, Erdogan I, De Witte W, Poelmans G, Ruisch IH, Reus LM, van Gils V, Jansen WJ, Vos SJB, Alam KA, Martinez A, Haavik J, Wimberley T, Dalsgaard S, Fóthi Á, Barta C, Fernandez-Aranda F, Jimenez-Murcia S, Berkel S, Matura S, Salas-Salvadó J, Arenella M, Serretti A, Mota NR, Bralten J.

medRxiv [Preprint]. 2024 Mar 8:2024.03.07.24303921.PMID: 38496672, PMCID: PMC10942494, DOI: 10.1101/2024.03.07.24303921

 

Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation

Sakson R., Beedgen L., Bernhard P., Alp K.M., Lübbehusen N., Röth R., Niesler B., Luzarowski M., Shevchuk O., Mayer M.P., Thiel C., Ruppert T. 

International Journal of Molecular Sciences. 2024 Jan 18;25(2):1191. PMID: 38256263, PMCID: PMC10816918, DOI: 10.3390/ijms25021191

Weitere Publikationen

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Veranstaltungen

EACD & iaacd 2025

4^th Triennial Meeting of the International Alliance of Academies of Childhood Disability (IAACD) and the 37^th Annual Meeting of the European Academy Of Childhood Disability (EACD)

Heidelberg 

24.06.2025 bis 28.06.2025

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INSTITUTSKOLLOQUIUM

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Stellenangebote

Weitere Stellenangebote am UKHD