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    KBG syndrome: report and follow-up on three unrelated patients observed at different ages
                                      
                                            Serra, Gregorio,                              Elefante, Pierandrea,                              Gazzitano, Ylenia,                              Memo, Luigi,                              Mineo, Valeria,                              Morando, Carla,                              Nardello, Rosaria,                              Piro, Ettore,                              Travan, Laura,                              Corsello, Giovanni                              
Published in Italian journal of pediatrics (21.02.2025)
                   
      
      
                                                  Published in Italian journal of pediatrics (21.02.2025)
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              Journal Article
          
              
          Prenatal diagnosis of mosaic distal 5p deletion and review of the literature
                                      
                                            Chen, Chih-Ping,                              Lee, Chen-Chi,                              Chang, Tung-Yao,                              Town, Dai-Dyi,                              Wang, Wayseen                              
Published in Prenatal diagnosis (01.01.2004)
                   
      
      
                                                  Published in Prenatal diagnosis (01.01.2004)
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              Journal Article
          
              
          Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature
                                      
                                            Kim, Yoo-Mi,                              Cheon, Chong Kun,                              Lim, Han Hyuk,                              Yoo, Han-Wook                              
Published in Journal of genetic medicine (31.12.2018)
                   
      
      
                                                  Published in Journal of genetic medicine (31.12.2018)
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              Journal Article
          
              
          Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature
                                      
                                            Kim, Yoo-Mi,                              Cheon, Chong Kun,                              Lim, Han Hyuk,                              Yoo, Han-Wook                              
Published in Journal of genetic medicine (31.12.2018)
                   
      
      
                                                                                
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              Published in Journal of genetic medicine (31.12.2018)
              Journal Article
          
              
          IDENTIFICAÇÃO DE PERFIS FENOTÍPICOS DA POPULAÇÃO FELINA DE RUA DA UNIVERSIDADE FEDERAL DO PIAUÍ E AVALIAÇÃO DE IMPACTOS PARA SAÚDE PÚBLICA
                                      
                                            Moraes, Mell Araujo de,                              Silva, Flávia Alexandra Hortencio Veras,                              Cruz,  Joseane Macêdo de Vera,                              Costa, Maria Rita Silva,                              Lima, Mateus Martini Martins de,                              Liarte, Daniel Barbosa                              
Published in Revista Ibero-Americana de Humanidades, Ciências e Educação (03.01.2024)
                   
      
      
                                                  Published in Revista Ibero-Americana de Humanidades, Ciências e Educação (03.01.2024)
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          Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions
                                      
                                            Hitchins, Megan P,                              Stanier, Philip,                              Preece, Michael A,                              Moore, Gudrun E                              
Published in Journal of medical genetics (01.12.2001)
                   
      
      
                                                  Published in Journal of medical genetics (01.12.2001)
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