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1by 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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2by 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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3“... and hyperphosphatemia due to renal PTH-resistance, but lack physical features of AHO. In Taiwan, genetic testing of PHP...”
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12by Bin Paola, Conti Adelaide, Capasso Emanuele, Fedeli Piergiorgio, Policino Fabio, Casella Claudia, Delbon Paola, Graziano VincenzoGet full text
Published 2018-07-01
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13by Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for Mendelian myopia (MM), a large and heterogeneous group of inherited...”
Published 2017-10-01
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14by 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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15by Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive...”
Published 2017-10-01
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16by Abeshi Andi, Precone Vincenza, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo“... that reduce the costs and time required for genetic testing. The introduction of next generation sequencing...”
Published 2017-10-01
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17by 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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18by Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Di Nicola Maura, Viola Francesco, Colombo Leonardo, Bertelli Matteo“... utility of the genetic test for pattern dystrophies. Pattern dystrophies are mostly inherited...”
Published 2017-10-01
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19by Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo“... utility of genetic testing for infantile nystagmus (IN). Forms of IN associated with variations in CACNA1F...”
Published 2017-10-01
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20by 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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