Search

Search Results

• 

  Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with Down syndrome and autoimmune thyroid diseases

  Muhammad Faizi, Nur Rochmah, Soetjipto Soetjipto, Anang Endaryanto, Sukmawati Basuki, Yuni Hisbiyah, Rayi Kurnia Perwitasari

  22-02-2023

  https://doi.org/10.4081/pmc.2023.283

  1299

  PDF: 683

  HTML: 30

• A not very essential obesity: the Rohhad Syndrome. Description of two cases and review of the literature

  V. Ramistella, M. Wasniewska, M. Valenzise, D. Corica, S. Cantucci, E. Pitrolo, M. Romeo, F. De Luca

  31-08-2013

  https://doi.org/10.4081/pmc.2013.40

  2340

  PDF: 5702

• Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome

  A. Berio, A. Piazzi

  30-06-2013

  https://doi.org/10.4081/pmc.2013.48

  1879

  PDF: 1797
• 

  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

  https://doi.org/10.4081/pmc.2017.169

  2198

  PDF: 1162

  HTML: 330