Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A
Temporal evolution and inter-patient heterogeneity in primary and recurrent head and neck squamous cell carcinoma.
Bresadola L et al.
Bjc Reports, 2024
39516649 (PubMed )
Supplement: 44276_2024_91_MOESM1_ESM.xlsx › Table_S8
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.
Filosto M et al.
Frontiers in Neurology, 2019
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
Musumeci O et al.
Neuromuscular Disorders : Nmd, 2012
[Type VII glycogen storage disease].
Nakajima H et al.
Ryoikibetsu Shokogun Shirizu, 1998
Phosphofructokinase deficiency: recent advances in molecular biology.
Nakajima H et al.
Muscle & Nerve. Supplement, 1995
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