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Guadagnolo, Daniele
52  results:
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1

Prenatal Genome-Wide Sequencing analysis (Exome or Genome) ..:

Marchionni, Enrica ; Guadagnolo, Daniele ; Mastromoro, Gioia.
European Journal of Human Genetics.  32 (2024)  7 - p. 759-769 , 2024
Link: https://doi.org/10.1038/..
 
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2

PrenatalCFAP53-related laterality defect: case report and r..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Novelli, Antonio...
The Journal of Maternal-Fetal & Neonatal Medicine.  36 (2023)  1 - p. , 2023
Link: https://doi.org/10.1080/..
 
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3

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in..:

Guadagnolo, Daniele ; Mastromoro, Gioia ; Marchionni, Enrica...
Biomedicines.  11 (2023)  7 - p. 2062 , 2023
Link: https://doi.org/10.3390/..
 
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4

Clinical variability in DYNC2H1-related skeletal ciliopathi..:

Piceci-Sparascio, Francesca ; Micale, Lucia ; Torres, Barbara...
European Journal of Human Genetics.  31 (2023)  4 - p. 479-484 , 2023
Link: https://doi.org/10.1038/..
 
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5

Duplication at 19q13.32q13.33 Segregating with Neuropsychia..:

Guadagnolo, Daniele ; Mastromoro, Gioia ; Torres, Barbara...
Genes.  14 (2023)  12 - p. 2157 , 2023
Link: https://doi.org/10.3390/..
 
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6

Mosaic genome‐wide paternal uniparental disomy after discor..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Marchionni, Enrica...
American Journal of Medical Genetics Part A.  191 (2023)  4 - p. 1101-1106 , 2023
Link: https://doi.org/10.1002/..
 
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7

Functional CVIDs phenotype clusters identified by the integ..:

Piano Mortari, Eva ; Pulvirenti, Federica ; Marcellini, Valentina...
Frontiers in Immunology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

Case Report: Interindividual variability and possible role ..:

Pulvirenti, Federica ; Cinicola, Bianca Laura ; Ferrari, Simona...
Frontiers in Immunology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

Critical prenatal diagnosis and management of incidental ex..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Marchionni, Enrica...
European Journal of Obstetrics & Gynecology and Reproductive Biology.  272 (2022)  - p. 251-252 , 2022
Link: https://doi.org/10.1016/..
 
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10

Chromosomal Microarray Analysis in Fetuses Detected with Is..:

Mastromoro, Gioia ; Khaleghi Hashemian, Nader ; Guadagnolo, Daniele...
Diagnostics.  12 (2022)  6 - p. 1328 , 2022
Link: https://doi.org/10.3390/..
 
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11

A Pain in the Neck: Lessons Learnt from Genetic Testing in ..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Khaleghi Hashemian, Nader...
Diagnostics.  13 (2022)  1 - p. 48 , 2022
Link: https://doi.org/10.3390/..
 
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12

Molecular Approaches in Fetal Malformations, Dynamic Anomal..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Khaleghi Hashemian, Nader...
Diagnostics.  12 (2022)  3 - p. 575 , 2022
Link: https://doi.org/10.3390/..
 
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13

Genomic Breakpoints' Characterization of a Large CHEK2 Dupl..:

Germani, Aldo ; Guadagnolo, Daniele ; Salvati, Valentina...
Diagnostics.  12 (2022)  7 - p. 1520 , 2022
Link: https://doi.org/10.3390/..
 
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14

Incidental SOS1 variant identified by non-invasive prenatal..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Marchionni, Enrica...
European Journal of Obstetrics & Gynecology and Reproductive Biology.  256 (2021)  - p. 518-520 , 2021
Link: https://doi.org/10.1016/..
 
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15

Prenatal Exome Sequencing: Background, Current Practice and..:

Guadagnolo, Daniele ; Mastromoro, Gioia ; Di Palma, Francesca..
Diagnostics.  11 (2021)  2 - p. 224 , 2021
Link: https://doi.org/10.3390/..
 
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