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Mischa S G Ruegg

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European Journal of Human Genetics : EJHG|April 14, 2023
The expanding genetic and clinical landscape associated with Meier-Gorlin syndromeEmily Nielsen-Dandoroff, Mischa S G Ruegg, Louise S Bicknell
American Journal of Medical Genetics. Part A|November 8, 2023
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephalyBridget J Fellows, Giovanna Cantini Tolezano, Sara Ferreira Pires, et al.
European Journal of Human Genetics : EJHG|March 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, et al.
American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
Pageof 1

Showing results (1-10 of 4) with videos related to

Sort By:
Pageof 1
European Journal of Human Genetics : EJHG|April 14, 2023
The expanding genetic and clinical landscape associated with Meier-Gorlin syndromeEmily Nielsen-Dandoroff, Mischa S G Ruegg, Louise S Bicknell
American Journal of Medical Genetics. Part A|November 8, 2023
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephalyBridget J Fellows, Giovanna Cantini Tolezano, Sara Ferreira Pires, et al.
European Journal of Human Genetics : EJHG|March 12, 2024
A second hotspot for pathogenic exon-skipping variants in CDC45Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, et al.
American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
Pageof 1