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Del Longo, Alessandra
569  results:
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1

Novel molecular, structural and clinical findings in an Ita..:

Lecca, Mauro ; Mauri, Lucia ; Gana, Simone...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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2

Ocular features in mucopolysaccharidosis: diagnosis and tre..:

Del Longo, Alessandra ; Piozzi, Elena ; Schweizer, Fiammetta
Italian Journal of Pediatrics.  44 (2018)  S2 - p. , 2018
Link: https://doi.org/10.1186/..
 
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3

Clinical evaluation and molecular screening of a large cons..:

Mauri, Lucia ; Manfredini, Emanuela ; Del Longo, Alessandra...
Journal of Human Genetics.  62 (2016)  2 - p. 277-290 , 2016
Link: https://doi.org/10.1038/..
 
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4

Detection of the first OCA6 Italian patient in a large coho..:

Veniani, Emanuela ; Mauri, Lucia ; Manfredini, Emanuela...
Journal of Dermatological Science.  81 (2016)  3 - p. 208-209 , 2016
Link: https://doi.org/10.1016/..
 
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5

Two novel splicing mutations in the SLC45A2 gene cause Ocul..:

Straniero, Letizia ; Rimoldi, Valeria ; Soldà, Giulia...
Journal of Human Genetics.  60 (2015)  9 - p. 467-471 , 2015
Link: https://doi.org/10.1038/..
 
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6

Enzymatic replacement therapy for Hunter disease: Up to 9ye..:

Parini, Rossella ; Rigoldi, Miriam ; Tedesco, Lucia...
Molecular Genetics and Metabolism Reports.  3 (2015)  - p. 65-74 , 2015
Link: https://doi.org/10.1016/..
 
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7

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia ..:

Mauri, Lucia ; Franzoni, Alessandra ; Scarcello, Manuela...
European Journal of Medical Genetics.  58 (2015)  2 - p. 66-70 , 2015
Link: https://doi.org/10.1016/..
 
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8

Functional characterization of two novel splicing mutations..:

Rimoldi, Valeria ; Straniero, Letizia ; Asselta, Rosanna...
Gene.  537 (2014)  1 - p. 79-84 , 2014
Link: https://doi.org/10.1016/..
 
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9

SLC45A2 mutation frequency in Oculocutaneous Albinism Itali..:

Mauri, Lucia ; Barone, Luca ; Al Oum, Muna...
Gene.  533 (2014)  1 - p. 398-402 , 2014
Link: https://doi.org/10.1016/..
 
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10

13q Deletion syndrome and retinoblastoma in identical dicho..:

De Francesco, Sonia ; Galluzzi, Paolo ; Del Longo, Alessandra...
European Journal of Ophthalmology.  22 (2012)  5 - p. 857-860 , 2012
Link: https://doi.org/10.5301/..
 
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11

Prevalence of FOXC1 variants in individuals with a suspecte..:

Siggs, Owen M ; Souzeau, Emmanuelle ; Pasutto, Francesca...
Siggs , O M , Souzeau , E , Pasutto , F , Dubowsky , A , Smith , J E H , Taranath , D , Pater , J , Rait , J L , Narita , A , Mauri , L , Del Longo , A , Reis , A , Chappell , A , Kearns , L S , Staffieri , S E , Elder , J E , Ruddle , J B , Hewitt , A W , Burdon , K P , Mackey , D A & Craig , J E 2019 , ' Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma ' , JAMA Ophthalmology , vol. 137 , no. 4 , pp. 348-355 . https://doi.org/10.1001/jamaophthalmol.2018.5646.  , 2019
Link: https://researchers.mq.e..
 
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12

Prevalence of FOXC1 Variants in Individuals With a Suspecte..:

Siggs, Owen M ; Souzeau, Emmanuelle ; Pasutto, Francesca...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459212/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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13

Enzymatic replacement therapy for Hunter disease: Up to 9 y..:

Parini, Rossella ; Rigoldi, Miriam ; Tedesco, Lucia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750582/.  , 2015
Link: http://www.ncbi.nlm.nih...
 
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14

Ocular features in mucopolysaccharidosis: diagnosis and tre..:

Alessandra Del Longo ; Elena Piozzi ; Fiammetta Schweizer
http://link.springer.com/article/10.1186/s13052-018-0559-9.  , 2018
Link: https://doi.org/10.1186/..
 
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15

Enzymatic replacement therapy for Hunter disease: Up to 9 y..:

Rossella Parini ; Miriam Rigoldi ; Lucia Tedesco...
http://www.sciencedirect.com/science/article/pii/S221442691530001X.  , 2015
Link: https://doi.org/10.1016/..
 
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