Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
[A case of triple A syndrome with c.463C>T mutation in the AAAS gene].
Hirosawa H et al.
Rinsho Shinkeigaku = Clinical Neurology, 2022
Genomic Analysis of Korean Patient With Microcephaly.
Lee J et al.
Frontiers in Genetics, 2020
33584783 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_3
Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome.
Nakamura J et al.
Clinical Journal of Gastroenterology, 2018
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