Associated Papers
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E et al.
Genes, 2023
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Green TE et al.
Human Molecular Genetics, 2022
OFD1: One gene, several disorders.
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
Alby C et al.
Birth Defects Research, 2018
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY et al.
European Journal of Human Genetics : Ejhg, 2016
The molecular basis of oral-facial-digital syndrome, type 1.
Macca M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009
Select a paper to view details