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American Journal of Medical Genetics. Part A|July 30, 2025
Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular BasisAnna-Christina Pansa, Mareike Selig, Markus Wingendorf, et al.Molecular Genetics & Genomic Medicine|March 8, 2020
Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopeniaMascha Schönfeld, Mareike Selig, Alexandra Russo, et al.Stem Cell Research|August 24, 2023
Generation of two human induced pluripotent stem cell lines from a patient with Neurofibromatosis type 1 (NF1) and pathogenic NF1 gene variant c.1466 A>G BCRTi011-A as well as a first-degree healthy relative (BCRTi010-A)Lilas Batool, Olha Storozhuk, Constanze Raab, et al.FEBS Open Bio|November 12, 2025
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276Mareike Selig, Swanhild Lohse, Sara Elahi, et al.Journal of Perinatal Medicine|April 11, 2022
A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories ‒ mostly aneuploidy and still often idiopathicJulia Sturm, Heiko Milera, Stephanie Essmann, et al.Human Gene Therapy|April 21, 2025
Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease PathogenesisMelina Weiß, Mareike Selig, Johannes Friedrich, et al.Clinical Genetics|November 13, 2022
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three familiesAurélie Becker, Charlotte Felici, Laëtitia Lambert, et al.Pageof 1