Publications by authors named "Julia Suh"

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Brain malformations and seizures by impaired chaperonin function of TRiC.
Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt, Dong Sun Julia Suh

Science· November 2024

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Julia Suh

medRxiv· October 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Dong Sun Julia Suh

Am J Hum Genet· June 2024

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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Julia Suh

Res Sq· June 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Dong Sun Julia Suh

Am J Hum Genet· April 2024

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Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, Sugirtahn Sivalingam, Ange-Line Bruel, Julia Suh

Hum Genet· January 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Dong Sun Julia Suh

Am J Hum Genet· January 2024

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