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Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare other Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Željka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
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Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing2026 Figshare other Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Martina Rinčić, Janja Kopić, Valentina Klein, Zeljka Krsnik, Thomas Liehr, Sebastian Gießelmann, +2 more
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Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Figshare other Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, Bodo Laube, +3 more
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Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series2026 Figshare other Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Salvatore Savasta, Francesco Fabrizio Comisi, Giovanni Battista Dell’Isola, Gabriele Di Pasquale, Ivy Johnson, Isabella Herman, +8 more
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Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series2026 Figshare other Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Salvatore Savasta, Francesco Fabrizio Comisi, Giovanni Battista Dell’Isola, Gabriele Di Pasquale, Ivy Johnson, Isabella Herman, +8 more
0citations
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