Associated Papers
Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.
Awad F et al.
Frontiers in Reproductive Health, 2025
41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data
Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.
Smetana J et al.
Molecular Cytogenetics, 2018
29375670 (PubMed )
Supplement: 13039_2018_357_MOESM2_ESM.xlsx › variants
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