Irene Bottillo

Pubblicazioni

Titolo Pubblicato in Anno
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. GENE 2015
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas EUROPEAN JOURNAL OF HUMAN GENETICS 2015
Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3 AMERICAN JOURNAL OF NEPHROLOGY 2015

ERC

  • LS2_1
  • LS2_5
  • LS2_14

KET

  • Life-science technologies & biotechnologies

Keywords

medical genetics
clinical exome sequencing
exome sequencing
Exome
whole exome sequencing

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