Associated Papers
Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Makhamreh MM et al.
Orphanet Journal of Rare Diseases, 2025
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
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
Shamseldin HE et al.
Genome Biology, 2015
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