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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 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...”
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3by 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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4by Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Beccari Tommaso, Bertelli Matteo“... on lymphatic malformation in HS. The genetic test is useful for confirming diagnosis, as well...”
Published 2018-09-01
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5by Rakhmanov Yeltay, Maltese Paolo Enrico, Marinelli Carla, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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6by Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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7by 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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8by Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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9by 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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10by 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...”
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11by Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo“... utility of the genetic test for optic atrophy (OA). OA is mostly inherited in an autosomal dominant manner...”
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12by 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...”
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13by 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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14by 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...”
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15by 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...”
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16by 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...”
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17by Abeshi Andi, Precone Vincenza, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo“...Inherited eye diseases are a group of conditions with genetic and phenotypic heterogeneity...”
Published 2017-10-01
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18by 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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19by 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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20by Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
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