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1by Rakhmanov Yeltay, Maltese Paolo Enrico, Marinelli Carla, Beccari Tommaso, Dundar Munis, Bertelli MatteoSubjects: “...ebtna lab utility gene test...”
Published 2018-09-01
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2by Rakhmanov Yeltay, Maltese Paolo Enrico, Marinelli Carla, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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3by Rakhmanov Yeltay, Maltese Paolo Enrico, Marinelli Carla, Castori Marco, Beccari Tommaso, Dundar Munis, Bertelli Matteo“... confirmation, as well as differential diagnosis, appropriate genetic counselling and access to clinical trials....”
Published 2018-09-01
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4by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo“... utility of genetic testing for Norrie disease. The disease is caused by variations in the NDP gene. Its...”
Published 2017-10-01
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5by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for ocular coloboma (COI). COI is inherited in an autosomal dominant manner...”
Published 2017-10-01
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6by Rakhmanov Yeltay, Maltese Paolo Enrico, Marinelli Carla, D’Agruma Leonardo, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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7by Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Marinelli Carla, Mattassi Raul Ettore, Amato Bruno, Beccari Tommaso, Dundar Munis, Bertelli Matteo“... and genetic heterogeneity. De novo mutations associated with the onset of sporadic HHT have been reported...”
Published 2018-09-01
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8by Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Marinelli Carla, Castori Marco, Beccari Tommaso, Dundar Munis, Bertelli Matteo“... disorders are clinically and genetically heterogeneous and have variable prognosis. They may have autosomal...”
Published 2018-09-01
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9by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo“... utility of the genetic test for Sorsby’s fundus dystrophy (SFD). SFD is caused by variations in the TIMP3...”
Published 2017-10-01
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10by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo“... utility of genetic testing for enhanced S-cone syndrome (ESCS). The disease has autosomal recessive...”
Published 2017-10-01
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11by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for familial exudative vitreoretinopathy (FEVR). There is insufficient data...”
Published 2017-10-01
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12by Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Marinelli Carla, Bertelli Matteo“... of genetic testing for lymphedema distichiasis (LD) syndrome. LD is inherited in an autosomal dominant manner...”
Published 2018-09-01
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13by Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo“... utility of genetic testing for ocular albinism and oculocutaneous albinism. Ocular albinism has X-linked...”
Published 2017-10-01
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