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1by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo“... utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a...”
Published 2017-10-01
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2by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Viola Francesco, Garoli Elena, Colombo Leonardo, Bertelli Matteo“... utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder...”
Published 2017-10-01
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3by Maltese Paolo Enrico, Rakhmanov Yeltay, Zulian Alessandra, Notarangelo Angelantonio, Bertelli MatteoGet full text
Published 2018-09-01
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4by Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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5by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo“... utility of genetic testing for Refsum disease. The disease has autosomal recessive inheritance, unknown...”
Published 2017-10-01
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6by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo“... utility of the genetic test for Mendelian cataract (MC). MC is caused by variations in the AGK, BFSP1...”
Published 2017-10-01
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7by Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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8by Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Paolacci Stefano, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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9by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo“... utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited...”
Published 2017-10-01
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10by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for Senior- Loken syndrome (SLSN). SLSN is inherited in an autosomal recessive...”
Published 2017-10-01
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11by Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo“... utility of the genetic test for cone rod dystrophies (CORDs). CORDs are caused by variations in the ABCA4...”
Published 2017-10-01
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13by Paolacci Stefano, Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Michelini Sandro, Bertelli Matteo“...Lymphatic malformations (LMs) show phenotypic variability, as well as clinical and genetic...”
Published 2018-09-01
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