Irene Bottillo

Pubblicazioni

Titolo Pubblicato in Anno
Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16 BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY 2016
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria SCIENTIFIC REPORTS 2016
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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