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Regina Kubica

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Pediatric Blood & Cancer|April 2, 2026
MYCN Amplification in RB1-Inactivated Retinoblastoma: Association With High-Risk FeaturesKyriaki Papaioannou, Regina Kubica, Karen Fischhuber, et al.
Nature Communications|October 31, 2019
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Rahel T Florian, Florian Kraft, Elsa Leitão, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Pageof 1

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

Sort By:
Pageof 1
Pediatric Blood & Cancer|April 2, 2026
MYCN Amplification in RB1-Inactivated Retinoblastoma: Association With High-Risk FeaturesKyriaki Papaioannou, Regina Kubica, Karen Fischhuber, et al.
Nature Communications|October 31, 2019
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Rahel T Florian, Florian Kraft, Elsa Leitão, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Pageof 1