Associated Papers
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered
Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances.
Cen ZD et al.
Seizure, 2016
A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.
Zhai Y et al.
International Journal of Medical Sciences, 2014
Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
Izumi K et al.
American Journal of Medical Genetics. Part A, 2013
Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency.
Karimi M et al.
Haematologica, 2008
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