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Bottillo, Irene
116  results:
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1

A pathogenic variant in the FLCN gene presenting with pure ..:

Bottillo, Irene ; Laino, Luigi ; Azzarà, Alessia...
Frontiers in Neuroscience.  17 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

Identification of seven variants in the col4a1 gene that al..:

Wang, Zhi ; Sun, Yan ; Zhang, Yiyin...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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3

Minigene splicing assays reveal new insights into exonic va..:

Shi, Xiaomeng ; Wang, Hong ; Zhang, Ruixiao...
Molecular Genetics & Genomic Medicine.  11 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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4

Reply to Fry, L.E.; MacLaren, R.E. Comment on "Di Giosaffat..:

Di Giosaffatte, Niccolò ; Grammatico, Paola ; Bottillo, Irene
Genes.  14 (2023)  12 - p. 2161 , 2023
Link: https://doi.org/10.3390/..
 
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5

RADX Gene Variant May Predispose to Familial Asperger Syndr..:

Azzarà, Alessia ; Rumore, Roberto ; Brugnoletti, Fulvia...
Genes.  14 (2023)  2 - p. 301 , 2023
Link: https://doi.org/10.3390/..
 
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6

Discordant cfDNA‐NIPT result unraveling a trisomy 12 chroni..:

Di Giosaffatte, Niccolò ; Bottillo, Irene ; Laino, Luigi...
Prenatal Diagnosis.  42 (2022)  8 - p. 1000-1003 , 2022
Link: https://doi.org/10.1002/..
 
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7

Two unrelated cases with biallelic CHEK2 variants:a novel c..:

Bottillo, Irene ; Savino, Emanuele ; Majore, Silvia...
European Journal of Human Genetics.  31 (2022)  4 - p. 474-478 , 2022
Link: https://doi.org/10.1038/..
 
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8

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder..:

Lintas, Carla ; Bottillo, Irene ; Sacco, Roberto...
Genes.  13 (2022)  12 - p. 2266 , 2022
Link: https://doi.org/10.3390/..
 
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9

Congenital Defects in a Patient Carrying a Novel Homozygous..:

Di Giosaffatte, Niccolò ; Ferraris, Alessandro ; Gaudioso, Federica...
Genes.  13 (2022)  12 - p. 2358 , 2022
Link: https://doi.org/10.3390/..
 
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10

A Novel Hypothesis on Choroideremia-Manifesting Female Carr..:

Di Giosaffatte, Niccolò ; Valiante, Michele ; Tricarico, Stefano...
Genes.  13 (2022)  7 - p. 1268 , 2022
Link: https://doi.org/10.3390/..
 
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11

Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary D..:

Shi, Xiao ; Geng, Hao ; Yu, Hui...
BioMed Research International.  2022 (2022)  - p. 1-8 , 2022
Link: https://doi.org/10.1155/..
 
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12

Elucidation of the Genomic-Epigenomic Interaction Landscape..:

Kumar Mamidi, Tarun Karthik ; Wu, Jiande ; Hicks, Chindo.
BioMed Research International.  2021 (2021)  - p. 1-15 , 2021
Link: https://doi.org/10.1155/..
 
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13

Establishing and Validating an Aging-Related Prognostic Fou..:

Zheng, Lian ; Yang, Yang ; Cui, Xiaorong.
BioMed Research International.  2021 (2021)  - p. 1-17 , 2021
Link: https://doi.org/10.1155/..
 
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14

Protein–protein interaction network analysis applied to DNA..:

Pontecorvi, Paola ; Bernardini, Laura ; Capalbo, Anna...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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15

True conversions from RAS mutant to RAS wild-type in circul..:

Nicolazzo, Chiara ; Barault, Ludovic ; Caponnetto, Salvatore...
Cancer Letters.  507 (2021)  - p. 89-96 , 2021
Link: https://doi.org/10.1016/..
 
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