Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in

Autor: K, Eggermann, R, Meyer, M, Begemann, D, Dey, E, Bültmann, I, Kurth, G C, Korenke, C, Knopp

Publikováno v: Genes. 13(12)

Heterozygous gain-of-function variants inWhole-exome sequencing (WES) from DNA extracted from peripheral blood was performed in a 10-year-old female presenting with demyelinating neuropathy, her similarly affected mother and the unaffected maternal g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::15a1f86a1a560b8587926e62cd946d86
https://pubmed.ncbi.nlm.nih.gov/36553623

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Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy

Autor: K. Eggermann, R. Meyer, M. Begemann, D. Dey, E. Bültmann, I. Kurth, G. C. Korenke, C. Knopp

Publikováno v: Genes 13(12), 2356 (2022). doi:10.3390/genes13122356 special issue: "Special Issue "Identification of Genes in Rare Syndromes" / Special Issue Editor Dr. Dagmar Wieczorek, Guest Editor"

Genes 13(12), 2356 (2022). doi:10.3390/genes13122356 special issue: "Special Issue "Identification of Genes in Rare Syndromes" / Special Issue Editor Dr. Dagmar Wieczorek, Guest Editor"
Published by MDPI, Basel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5593510a2f378460f0cf7c5baf75696

Severe fetal brain damage subsequent to acute maternal hypoxemic deterioration in COVID‐19

Autor: L Higgins-Wood, E Bültmann, T Schulz, Bettina Bohnhorst, C. S. von Kaisenberg, A L Düppers

Publikováno v: Ultrasound in Obstetrics & Gynecology

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c9f9acf965196ab932714e283cf814
http://europepmc.org/articles/PMC8441859

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