Year | Title | Altmetric |
---|---|---|
2021 | Repeatedly in rhabdomyolysis.
Pediatric Emergency Care.
37:E1759-E1760.
2021
|
|
2021 | Treatment of ARS deficiencies with specific amino acids.
Genetics in Medicine.
23:2202-2207.
2021
|
|
2021 | Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Molecular Genetics and Genomic Medicine.
9.
2021
|
|
2020 | Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Science Advances.
6.
2020
|
|
2020 | Simultaneous osteosarcoma and renal cell carcinoma with BRCA1 mutation in a young male adult with prior oligodendroglioma.
Pediatric Blood and Cancer.
67.
2020
|
|
2017 | Pediatric cancer genetics.
Current Opinion in Pediatrics.
29:629-633.
2017
|
|