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Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants

Title:	Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
Authors:	Schobers, Gaby^{Aff1, Aff2}; Pennings, Maartje^Aff1; de Vries, Juliette^Aff1; Kwint, Michael^Aff1; van Reeuwijk, Jeroen^{Aff1, Aff2}; Corominas Galbany, Jordi^Aff1; van Beek, Ronald^Aff1; Kamping, Eveline^Aff1; Timmermans, Raoul^Aff1; Kamsteeg, Erik-Jan^Aff1; Haer-Wigman, Lonneke^{Aff1, Aff2}; Cremers, Frans P. M.^{Aff1, Aff2}; Roosing, Susanne^{Aff1, Aff2}; Gilissen, Christian^Aff1; Kremer, Hannie^{Aff1, Aff2, Aff3}; Brunner, Han G.^{Aff1, Aff2, Aff4}; Yntema, Helger G.^{Aff1, Aff2, IDs41431024016949_cor1}; Vissers, Lisenka E. L. M.^{Aff1, Aff2, IDs41431024016949_cor2}
Source:	European Journal of Human Genetics. 33(1):56-64
Database:	Springer Nature Journals