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7 results on '"Duker, Angela L."'

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1. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

2. Identification of potential non-invasive biomarkers in diastrophic dysplasia

3. Defining the clinical phenotype of Saul–Wilson syndrome

5. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

6. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

7. RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation

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