Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Rare heterozygous GDF6 variants in patients with renal anomalies.
Martens H et al.
European Journal of Human Genetics : Ejhg, 2020
32737436 (PubMed )
Supplement: 41431_2020_678_MOESM1_ESM.pdf
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
Islam F et al.
Clinical Genetics, 2020
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N et al.
Clinical Genetics, 2014
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
Asai-Coakwell M et al.
Human Molecular Genetics, 2009
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