Associated Papers
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome.
Ulhaq ZS et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2023
35331022 (PubMed )
Supplement: sj-xlsx-1-cpc-10.1177_10556656221089156.xlsx › Sheet1
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Czeschik JC et al.
Human Genetics, 2013
Select a paper to view details