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Julia Suh

Explore the profile of Julia Suh including associated specialties, affiliations and a list of published articles. Areas
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Recent Articles
1.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
Res Sq . 2024 Jun; PMID: 38903062
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic...
2.
Schmetz A, Ludecke H, Surowy H, Sivalingam S, Bruel A, Caumes R, et al.
Hum Genet . 2023 Dec; 143(1):71-84. PMID: 38117302
Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric...
3.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, et al.
medRxiv . 2023 Jul; PMID: 37503210
The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic...