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  A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations

  Savina Mannarino, Eitan Keizman, Michele Pasotti, Alessia Claudia Codazzi, Elisabetta De Sando, Alessandro Giamberti

  24-11-2015

  Published: 24 November 2015

  1784

  PDF: 1070

  HTML: 263

• Turner-like Syndrome: a case report

  M.R. Velletri, M. Valenzise, M. Wasniewska, S. Arasi, A. Santisi, M. Romeo, E. Pitrolo, S. Santucci, D. Corica, R. Crisafulli, G. Zirilli

  31-10-2013

  Published: 31 October 2013

  1164

  PDF: 1128
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  Nutritional and metabolic programming during the first thousand days of life

  Massimo Agosti, Francesco Tandoi, Laura Morlacchi, Angela Bossi

  28-06-2017

  Published: 28 June 2017

  12931

  PDF: 6650

  HTML: 1468
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  Hyperammonemic coma in a patient with late-onset OTC deficiency

  V. D’Onofrio, F. Poma, A. Enea, F. Santarelli, C. Lovera, M. Spada

  30-06-2014

  Published: 30 June 2014

  1829

  PDF: 2816
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  Meconial peritonitis in a rare association of partial ileal apple-peel atresia with small abdominal wall defect

  V. Insinga, M. Pensabene, M. Giuffrè, M. Busè, M. Cimador, G. Corsello, F. Siracusa

  30-06-2014

  Published: 30 June 2014

  1894

  PDF: 2304
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  Pediatric primary spontaneous pneumothorax: a comparison of treatment at pediatric surgery vs. thoracic surgery departments

  Maria Enrica Miscia, Maria Castellano, Stella Chiarini, Giuseppe Lauriti, Marco Casaccia, Pierluigi Lelli Chiesa, Gabriele Lisi

  15-03-2023

  Published: 15 March 2023

  1081

  PDF: 398

  HTML: 26
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  Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?

  Agostino Berio, Attilia Piazzi, Carlo Enrico Traverso

  15-12-2017

  Published: 15 December 2017

  1832

  PDF: 984

  HTML: 299
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  Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy

  Giovanni Murialdo, Attilia Piazzi, Giuseppe Badolati, Enrico Calcagno, Agostino Berio

  27-06-2016

  Published: 27 June 2016

  1531

  PDF: 1124

  HTML: 348
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  Mitotic crossover promotes leukemogenesis in children born with TEL-AML1 via the generation of loss of heterozygosity at 12p

  Ivan Ivanovski, Livia Garavelli, Olivera Djurić, Aleksandar Ćirović, Dejan Škorić, Petar I. Ivanovski

  24-11-2015

  Published: 24 November 2015

  2586

  PDF: 1260

  HTML: 237