Alexandra Martins

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The identification of a causal mutation is essential for molecular diagnosis and clinical management of many genetic disorders. However, even if next-generation exome sequencing has greatly improved the detection of nucleotide changes, the biological interpretation of most exonic variants remains challenging. Moreover, particular attention is typically(More)
discussões (por vezes filosóficas) sobre type-level programming e todos os preciosos co-mentários sobre c ´ odigo e versões prévias deste relatório! As minhasúltimas palavras de agradecimento v ˜ ao para a pessoa que nosúltimos anos tem dado significadò a minha vida e porque, na vida, os afectos s ˜ ao o que realmente conta, gostava de expressar a minha(More)
BACKGROUND Pseudomyxoma peritonei is an uncommon condition with an estimated incidence of one to two per million (worldwide) per year. It is characterized by the peritoneal deposition of mucinous tumors, most commonly of the appendix, and occasionally from the ovary, coupled by mucinous ascites. CASE PRESENTATION We report the case of a 76-year-old woman(More)
  • Arturo Alvarado, Kauko Aromaa, Rosemary Barberet, Edson Barroso, Claudio Beato, Otto Boenke +19 others
  • 2009
C Cr ri im mi in na al l j ju us st ti ic ce e a as ss se es ss sm me en nt t t to oo ol lk ki it t The designations employed and the presentation of material in this publication do not imply the expression of any opinion whatsoever on the part of the Secretariat of the United Nations concerning the legal status of any country, territory, city or area or of(More)
There is an error in Fig 4. The symbol for correlation coefficient "ρ" should be replaced with "r", to match the description in the main text and Figure legend. Please see the correct Fig 4 here. There is a typographical error in the last sentence of the paragraph following Fig 4 (Results section): 'ΔΔHZEI' should be replaced with 'ΔHZEI'. The correct(More)
  • Pedro Encarnação, Kim Adams, Albert Cook, Margarida Nunes Da Ponte, Anabela Caiado, Teresa Leite +6 others
  • 2015
This paper describes the first user trials results of an integrated augmented manipulation and communication robotic assistive technology to enable children with disabilities to actively participate, along with their typically developing peers, in academic activities requiring the manipulation of educational items. Five children with different degrees of(More)
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