Associated Papers
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.
Liang M et al.
Molecular Genetics & Genomic Medicine, 2024
38400599 (PubMed )
Supplement: MGG3-12-e2402-s001.pdf
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G et al.
Plos One, 2023
37540677 (PubMed )
Supplement: pone.0288336.s003.xlsx › Supplementary_Table_II
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
35768426 (PubMed )
Supplement: 41531_2022_346_MOESM4_ESM.xlsx › Sheet1
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S1.The_information_of_annotated_gene_mutations1.xlsx › ___
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
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