-
1by Rakhmanov Yeltay, Maltese Paolo Enrico, Marinelli Carla, Beccari Tommaso, Dundar Munis, Bertelli MatteoSubjects: “...ebtna lab utility gene test...”
Published 2018-09-01
Get full text
Article -
2by Rakhmanov Yeltay, Maltese Paolo Enrico, Paolacci Stefano, Bruson Alice, Bertelli MatteoSubjects: “...ebtna lab utility gene test...”
Published 2018-09-01
Get full text
Article -
3by 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
Get full text
Article -
4by 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
Get full text
Article -
5by 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
Get full text
Article -
6by Rakhmanov Yeltay, Maltese Paolo Enrico, Marinelli Carla, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
Article -
7by Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
Article -
8by 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
Get full text
Article -
9by Maltese Paolo Enrico, Rakhmanov Yeltay, Zulian Alessandra, Notarangelo Angelantonio, Bertelli MatteoGet full text
Published 2018-09-01
Article -
10by Paolacci Stefano, Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Bertelli Matteo“... of the latest research findings and diagnostic protocols on lymphatic malformation in RASopathies. The genetic...”
Published 2018-09-01
Get full text
Article -
11by Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Bertelli MatteoGet full text
Published 2018-09-01
Article -
12by 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
Get full text
Article -
13by Michelini Sandro, Cardone Mrco, Maltese Paolo, Bruson Alice, Fiorentino Alessandro, Bertelli MatteoSubjects: “...genetic...”
Published 2017-12-01
Get full text
Article -
14by 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
Get full text
Article -
15by 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...”
Published 2017-10-01
Get full text
Article -
16by Paolacci Stefano, Rakhmanov Yeltay, Maltese Paolo Enrico, Fanelli Francesca, Mattassi Raul Ettore, Amato Bruno, Bertelli Matteo“.... The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk...”
Published 2018-09-01
Get full text
Article -
17by 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
Get full text
Article -
18by 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
Get full text
Article -
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
Get full text
Article -
20by 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
Get full text
Article
