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Mellone, Simona
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1

Case report: Better late than never, but sooner is better: ..:

Mancioppi, Valentina ; Pozzi, Erica ; Zanetta, Sara...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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2

A new mutation in the CAVIN1/PTRF gene in two siblings with..:

Mancioppi, Valentina ; Daffara, Tommaso ; Romanisio, Martina...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

Genes and Microbiota Interaction in Monogenic Autoimmune Di..:

Costa, Federica ; Beltrami, Eleonora ; Mellone, Simona...
Biomedicines.  11 (2023)  4 - p. 1127 , 2023
Link: https://doi.org/10.3390/..
 
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4

#6786 ADTKD DUE TO MUC-1 GENE MUTATION: A MAJOR DIAGNOSTIC ..:

Sossai, Giulia ; Moscato, Marco ; Gandolfini, Ilaria...
Nephrology Dialysis Transplantation.  38 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1093/..
 
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5

Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplicat..:

Mellone, Simona ; Bertelli, Enrica ; Roviglione, Barbara...
Genes.  13 (2022)  12 - p. 2190 , 2022
Link: https://doi.org/10.3390/..
 
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6

The Usefulness of a Targeted Next Generation Sequencing Gen..:

Mellone, Simona ; Puricelli, Chiara ; Vurchio, Denise...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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7

Retrospective Diagnosis of a Novel ACAN Pathogenic Variant ..:

Mancioppi, Valentina ; Prodam, Flavia ; Mellone, Simona...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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8

Consumption of complement in a 26-year-old woman with sever..:

Cugno, Massimo ; Macor, Paolo ; Giordano, Mara...
Journal of Autoimmunity.  124 (2021)  - p. 102728 , 2021
Link: https://doi.org/10.1016/..
 
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9

Copy number variations residing outside the SHOX enhancer r..:

Fanelli, Antonella ; Vannelli, Silvia ; Babu, Deepak...
Molecular Genetics & Genomic Medicine.  10 (2021)  1 - p. , 2021
Link: https://doi.org/10.1002/..
 
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10

A Long Contiguous Stretch of Homozygosity Disclosed a Novel..:

Mellone, Simona ; Zavattaro, Marco ; Vurchio, Denise...
Genes.  12 (2021)  11 - p. 1709 , 2021
Link: https://doi.org/10.3390/..
 
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11

Screening for haemoglobin disorders: The experience of the ..:

Rolla, Roberta ; Paglino, Giulia ; Puricelli, Chiara...
International Journal of Laboratory Hematology.  43 (2020)  2 - p. , 2020
Link: https://doi.org/10.1111/..
 
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12

Variants in the 5′UTR reduce SHOX expression and contribute..:

Babu, Deepak ; Vannelli, Silvia ; Fanelli, Antonella...
European Journal of Human Genetics.  29 (2020)  1 - p. 110-121 , 2020
Link: https://doi.org/10.1038/..
 
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13

Co-occurrence of genomic imbalances on Xp22.1 in the SHOX r..:

Monzani, Alice ; Babu, Deepak ; Mellone, Simona...
BMC Medical Genomics.  12 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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14

Novel GLI2 mutations identified in patients with Combined P..:

Babu, Deepak ; Fanelli, Antonella ; Mellone, Simona...
Clinical Endocrinology.  90 (2019)  3 - p. 449-456 , 2019
Link: https://doi.org/10.1111/..
 
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15

Testing for the cytosine insertion in the VNTR of the MUC1 ..:

Musetti, Claudio ; Babu, Deepak ; Fusco, Ileana...
Journal of Nephrology.  29 (2016)  3 - p. 451-455 , 2016
Link: https://doi.org/10.1007/..
 
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