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Baldo, Chiara
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1

Generation of IGGi003-A induced pluripotent stem cell line ..:

Conteduca, Giuseppina ; Baldo, Chiara ; Arado, Alessia...
Stem Cell Research.  76 (2024)  - p. 103324 , 2024
Link: https://doi.org/10.1016/..
 
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2

Identification of the DNA methylation signature of Mowat-Wi..:

Caraffi, Stefano Giuseppe ; van der Laan, Liselot ; Rooney, Kathleen...
European Journal of Human Genetics.  32 (2024)  6 - p. 619-629 , 2024
Link: https://doi.org/10.1038/..
 
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3

Molecular Analysis and Reclassification of NSD1 Gene Varian..:

Testa, Barbara ; Conteduca, Giuseppina ; Grasso, Marina...
Genes.  14 (2023)  2 - p. 295 , 2023
Link: https://doi.org/10.3390/..
 
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4

Generation of induced pluripotent stem cell lines from a pa..:

Conteduca, Giuseppina ; Baldo, Chiara ; Arado, Alessia...
Stem Cell Research.  66 (2023)  - p. 103007 , 2023
Link: https://doi.org/10.1016/..
 
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5

Identification of alternative transcripts of NSD1 gene in S..:

Conteduca, Giuseppina ; Testa, Barbara ; Baldo, Chiara...
Gene.  851 (2023)  - p. 146970 , 2023
Link: https://doi.org/10.1016/..
 
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6

Multi-disciplinary Insights from the First European Forum o..:

Viti, Federica ; De Giorgio, Roberto ; Ceccherini, Isabella...
Digestive Diseases and Sciences.  68 (2023)  10 - p. 3857-3871 , 2023
Link: https://doi.org/10.1007/..
 
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7

NSD1 Mutations in Sotos Syndrome Induce Differential Expres..:

Conteduca, Giuseppina ; Cangelosi, Davide ; Coco, Simona...
Life.  12 (2022)  7 - p. 988 , 2022
Link: https://doi.org/10.3390/..
 
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8

8p23.2-pter Microdeletions: Seven New Cases Narrowing the C..:

Catusi, Ilaria ; Garzo, Maria ; Capra, Anna Paola...
Genes.  12 (2021)  5 - p. 652 , 2021
Link: https://doi.org/10.3390/..
 
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9

Clinical Manifestations in a Girl with NAA10-Related Syndro..:

Maini, Ilenia ; Caraffi, Stefano G. ; Peluso, Francesca...
Genes.  12 (2021)  6 - p. 900 , 2021
Link: https://doi.org/10.3390/..
 
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10

Expanding the phenotype of Wiedemann‐Steiner syndrome: Cran..:

Giangiobbe, Sara ; Caraffi, Stefano Giuseppe ; Ivanovski, Ivan...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 2877-2886 , 2020
Link: https://doi.org/10.1002/..
 
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11

Alazami syndrome: the first case of papillary thyroid carci..:

Ivanovski, Ivan ; Caraffi, Stefano Giuseppe ; Magnani, Elisa...
Journal of Human Genetics.  65 (2019)  2 - p. 133-141 , 2019
Link: https://doi.org/10.1038/..
 
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12

Lowry-Wood syndrome: further evidence of association with R..:

Shelihan, Ivan ; Ehresmann, Sophie ; Magnani, Cinzia...
Human Genetics.  137 (2018)  11-12 - p. 905-909 , 2018
Link: https://doi.org/10.1007/..
 
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13

Phenotype and genotype of 87 patients with Mowat–Wilson syn..:

Ivanovski, Ivan ; Djuric, Olivera ; Caraffi, Stefano Giuseppe...
Genetics in Medicine.  20 (2018)  9 - p. 965-975 , 2018
Link: https://doi.org/10.1038/..
 
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14

FXS-Like Phenotype in Two Unrelated Patients Carrying a Met..:

Fernández, Esperanza ; Gennaro, Elena ; Pirozzi, Filomena...
Frontiers in Genetics.  9 (2018)  - p. , 2018
Link: https://doi.org/10.3389/..
 
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15

Guideline recommendations for diagnosis and clinical manage..:

Rinaldi, Berardo ; Vaisfeld, Alessandro ; Amarri, Sergio...
Orphanet Journal of Rare Diseases.  12 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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