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Francesco, Brancati
335  Ergebnisse:
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1

Chromatin conformation capture in the clinic: 4C-seq/HiC di..:

Daly, Adrian F. ; Dunnington, Leslie A. ; Rodriguez-Buritica, David F....
Genome Medicine.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Patient perspective in perceived comparative genetic mutati..:

Cilli, Eleonora ; Guerra, Federica ; Ranieri, Jessica..
Clinical Genetics.  105 (2024)  4 - p. 355-363 , 2024
Link: https://doi.org/10.1111/..
 
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3

The phenotypic and genotypic spectrum of individuals with m..:

Furia, Francesca ; Levy, Amanda M. ; Theunis, Miel...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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4

The spectrum of heart defects in theTRAF7-related multiple ..:

Pisan, Elise ; De Luca, Chiara ; Brancati, Francesco...
Proceedings of the National Academy of Sciences.  121 (2024)  12 - p. , 2024
Link: https://doi.org/10.1073/..
 
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5

Sindrome progeroide atipica con lipodistrofia parziale fami..:

Russo, Benedetta ; Malandrucco, Ilaria ; Menduni, Marika...
Il Diabete.  35 (2023)  1 - p. , 2023
Link: https://doi.org/10.30682..
 
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6

2p25.3 microduplications involving MYT1L: further phenotypi..:

Bouassida, Malek ; Egloff, Matthieu ; Levy, Jonathan...
European Journal of Human Genetics.  31 (2023)  8 - p. 895-904 , 2023
Link: https://doi.org/10.1038/..
 
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7

Corrigendum to "Molecular genetic testing in athletes: Why ..:

Castelletti, Silvia ; Zorzi, Alessandro ; Ballardini, Enrico...
International Journal of Cardiology.  370 (2023)  - p. 476 , 2023
Link: https://doi.org/10.1016/..
 
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8

Preliminary Risk and Mitigation Assessment in Cyber-Physica..:

, In: 2023 53rd Annual IEEE/IFIP International Conference on Dependable Systems and Networks Workshops (DSN-W),
Foldvari, Andras ; Brancati, Francesco ; Pataricza, Andras - p. 267-274 , 2023
Link: https://doi.org/10.1109/..
 
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9

Genetics of familial adult myoclonus epilepsy: From linkage..:

Corbett, Mark A. ; Depienne, Christel ; Veneziano, Liana...
Epilepsia.  64 (2023)  S1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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10

Truncating variants in the penultimate exon of TGFBR1 escap..:

Fortugno, Paola ; Monetta, Rosanna ; Cinquina, Valeria...
European Journal of Human Genetics.  31 (2023)  5 - p. 596-601 , 2023
Link: https://doi.org/10.1038/..
 
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11

Modelling and Assessing the Risk of Cascading Effects with ..:

, In: 2022 IEEE International Conference on Cyber Security and Resilience (CSR),
Bicchierai, Irene ; Schiavone, Enrico ; Brancati, Francesco - p. 261-266 , 2022
Link: https://doi.org/10.1109/..
 
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12

Molecular genetic testing in athletes: Why and when a posit..:

Castelletti, Silvia ; Zorzi, Alessandro ; Ballardini, Enrico...
International Journal of Cardiology.  364 (2022)  - p. 169-177 , 2022
Link: https://doi.org/10.1016/..
 
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13

A recurrent, de novo pathogenic variant in ARPC4 disrupts a..:

Laboy Cintron, Dianne ; Muir, Alison M. ; Scott, Abbey...
Human Genetics and Genomics Advances.  3 (2022)  1 - p. 100072 , 2022
Link: https://doi.org/10.1016/..
 
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14

Author Correction: Mutations in PYCR1 cause cutis laxa with..:

Reversade, Bruno ; Escande-Beillard, Nathalie ; Dimopoulou, Aikaterini...
Nature Genetics.  54 (2022)  2 - p. 213-213 , 2022
Link: https://doi.org/10.1038/..
 
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15

HDAC9structural variants disruptingTWIST1transcriptional re..:

Hirsch, Naama ; Dahan, Idit ; D'haene, Eva...
Genome Research.  32 (2022)  7 - p. 1242-1253 , 2022
Link: https://doi.org/10.1101/..
 
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