Computational facial analysis for rare Mendelian disorders
TC Hsieh, PM Krawitz - … Journal of Medical Genetics Part C …, 2023 - Wiley Online Library
With the advances in computer vision, computational facial analysis has become a powerful
and effective tool for diagnosing rare disorders. This technology, also called next‐generation …
and effective tool for diagnosing rare disorders. This technology, also called next‐generation …
Cullin 3 RING E3 ligase inactivation causes NRF2-dependent NADH reductive stress, hepatic lipodystrophy, and systemic insulin resistance
Cullin RING E3 ligases (CRL) have emerged as key regulators of disease-modifying
pathways and therapeutic targets. Cullin3 (Cul3)-containing CRL (CRL3) has been …
pathways and therapeutic targets. Cullin3 (Cul3)-containing CRL (CRL3) has been …
[HTML][HTML] GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases
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 …
phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that …
CUL3-Related Neurodevelopmental Disorder: Clinical Phenotype of 20 New Individuals and Identification of a Potential Phenotype-Associated Episignature
L van der Laan, A Silva, L Kleinendorst… - Human Genetics and …, 2024 - cell.com
Neurodevelopmental disorder with or without autism or seizures (NEDAUS; OMIM# 619239)
is a neurodevelopmental disorder characterized by global developmental delay, speech …
is a neurodevelopmental disorder characterized by global developmental delay, speech …
Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient
Y Colak, M Yilmaz, P Ozkan Kart, K Terali… - Molecular …, 2024 - karger.com
Abstract Introduction: Cullin-3, encoded by the CUL3, is a core component of the ubiquitin
E3 ligase complex. Through binding to specific adapters, this scaffold protein mediates the …
E3 ligase complex. Through binding to specific adapters, this scaffold protein mediates the …
GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases
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 …
phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that …