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104
Aachen papers (primary topic)
225
Further papers (secondary topic)
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92
Aachen authors
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Papers 104
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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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Additional file 1 of Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series2026 Figshare dataset 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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Individualized antisense oligonucleotide treatment eligibility of patients living with neurodevelopmental diseases2026 Cell Reports Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Annemieke M Aartsma-Rus, Claudio Melo de Gusmão, Scott Demarest, Willeke van Roon‐Mom, Holm Graessner, Lynn Wein Bush, +4 more
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Clinical characterization and genotype–phenotype correlations in Chilton-Okur-Chung syndrome2026 BMC Medical Genomics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Mehmet Buğrahan Düz, Amaia Lasa‐Aranzasti, Ana Cazurro‐Gutiérrez, Anna Hackett, Anna Maria Cueto-González, Arthur Arenas Périco, +22 more
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