Associated Papers
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.
Makay P et al.
American Journal of Medical Genetics. Part A, 2022
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.
Elmas M et al.
Molecular Syndromology, 2020
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Pehlivan D et al.
American Journal of Human Genetics, 2019
New macular findings in individuals with biallelic KLHL7 gene mutation.
Heng LZ et al.
Bmj Open Ophthalmology, 2019
Select a paper to view details