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Rinelli, Martina
63  results:
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1

Identification of a False-positive Multiplex Ligationdepend..:

Concolino, Paola ; De Paolis, Elisa ; Rinelli, Martina...
Annals of Laboratory Medicine.  , 2024
Link: https://doi.org/10.3343/..
 
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2

Potential pathogenetic role of a novel ABCC8 missense varia..:

Perri, Alessandro ; Fattore, Simona ; Minucci, Angelo...
Molecular Biology Reports.  51 (2024)  1 - p. , 2024
Link: https://doi.org/10.1007/..
 
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3

Identification and Molecular Characterization of a Novel La..:

Concolino, Paola ; De Paolis, Elisa ; Moffa, Simona...
Genes.  14 (2023)  6 - p. 1275 , 2023
Link: https://doi.org/10.3390/..
 
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4

CUX1-related neurodevelopmental disorder: deep insights int..:

Oppermann, Henry ; Marcos-Grañeda, Elia ; Weiss, Linnea A....
European Journal of Human Genetics.  31 (2023)  11 - p. 1251-1260 , 2023
Link: https://doi.org/10.1038/..
 
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5

Targeted therapy for pediatric diffuse intrinsic pontine gl..:

Del Baldo, Giada ; Carai, Andrea ; Abbas, Rachid...
Therapeutic Advances in Medical Oncology.  14 (2022)  - p. 175883592211136 , 2022
Link: https://doi.org/10.1177/..
 
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6

Posterior fossa ependymoma in neurodevelopmental syndrome c..:

Paparella, Roberto ; Caroleo, Anna Maria ; Agolini, Emanuele...
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2796-2802 , 2022
Link: https://doi.org/10.1002/..
 
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7

A Novel CHEK2 Variant Identified by Next-Generation Sequenc..:

Valiante, Michele ; Rizzolo, Piera ; Rinelli, Martina...
SN Comprehensive Clinical Medicine.  4 (2022)  1 - p. , 2022
Link: https://doi.org/10.1007/..
 
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8

Liquid Biopsy with Detection of NRASQ61K Mutation in Cerebr..:

Mastronuzzi, Angela ; Fabozzi, Francesco ; Rinelli, Martina...
Diagnostics.  12 (2022)  7 - p. 1609 , 2022
Link: https://doi.org/10.3390/..
 
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9

DICER1 Syndrome and Cancer Predisposition: From a Rare Pedi..:

Caroleo, Anna Maria ; De Ioris, Maria Antonietta ; Boccuto, Luigi...
Frontiers in Oncology.  10 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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10

Medulloblastoma Associated with Down Syndrome: From a Rare ..:

Boni, Alessandra ; Ranalli, Marco ; Del Baldo, Giada...
Diagnostics.  11 (2021)  2 - p. 254 , 2021
Link: https://doi.org/10.3390/..
 
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11

Expansion of the clinical and molecular spectrum of an XPD‐..:

Agolini, Emanuele ; Botta, Elena ; Lodi, Mariachiara...
Clinical Genetics.  99 (2021)  6 - p. 842-848 , 2021
Link: https://doi.org/10.1111/..
 
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12

Establishment and Characterization of a Cell Line (S-RMS1) ..:

Colletti, Marta ; Galardi, Angela ; Miele, Evelina...
International Journal of Molecular Sciences.  22 (2021)  11 - p. 5484 , 2021
Link: https://doi.org/10.3390/..
 
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13

Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspi..:

Del Baldo, Giada ; Carta, Roberto ; Alessi, Iside...
Frontiers in Oncology.  11 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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14

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Mini..:

Rotunno, Roberta ; Diociaiuti, Andrea ; Dentici, Maria Lisa...
Genes.  12 (2021)  5 - p. 748 , 2021
Link: https://doi.org/10.3390/..
 
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15

Molecular Characterization of Medulloblastoma in a Patient ..:

Ranalli, Marco ; Boni, Alessandra ; Caroleo, Anna Maria...
Diagnostics.  11 (2021)  4 - p. 647 , 2021
Link: https://doi.org/10.3390/..
 
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