Associated Papers
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR et al.
Human Mutation, 2022
A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.
Malik S et al.
American Journal of Medical Genetics. Part A, 2022
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Zhang C et al.
American Journal of Medical Genetics. Part A, 2021
Craniofacial phenotypes associated with Robinow syndrome.
Conlon CJ et al.
American Journal of Medical Genetics. Part A, 2021
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D et al.
American Journal of Medical Genetics. Part A, 2021
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Select a paper to view details