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Zuntini, A
419  results:
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1

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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2

Case report: Expanding the phenotype of FOXP1-related intel..:

Cesaroni, Carlo Alberto ; Pollazzon, Marzia ; Mancini, Cecilia...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
Journal of Medical Genetics.  60 (2023)  12 - p. 1224-1234 , 2023
Link: https://doi.org/10.1136/..
 
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4

Prenatal Clinical Findings in RASA1-Related Capillary Malfo..:

Coccia, Emanuele ; Valeri, Lara ; Zuntini, Roberta...
Genes.  14 (2023)  3 - p. 549 , 2023
Link: https://doi.org/10.3390/..
 
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5

Characterization of BRCA Deficiency in Ovarian Cancer:

Barbero, Giovanna ; Zuntini, Roberta ; Magini, Pamela...
Cancers.  15 (2023)  5 - p. 1530 , 2023
Link: https://doi.org/10.3390/..
 
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6

Developmental and epileptic encephalopathy in a young Itali..:

Rossi, Jessica ; Russo, Marco ; Gobbi, Giuseppe...
Brain and Development.  45 (2023)  8 - p. 445-450 , 2023
Link: https://doi.org/10.1016/..
 
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7

Case Report: Sequential postzygotic HRAS mutation and gains..:

Zuntini, Roberta ; Cattani, Chiara ; Pedace, Lucia...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

ANKLE2‐related microcephaly: A variable microcephaly syndro..:

Thomas, Ajay X. ; Link, Nichole ; Robak, Laurie A....
Annals of Clinical and Translational Neurology.  9 (2022)  8 - p. 1276-1288 , 2022
Link: https://doi.org/10.1002/..
 
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9

Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrom..:

Sutera, Samuele ; Giachino, Daniela Francesca ; Pelle, Alessandra..
Biomedicines.  11 (2022)  1 - p. 81 , 2022
Link: https://doi.org/10.3390/..
 
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10

MCPH1: A Novel Case Report and a Review of the Literature:

Caraffi, Stefano Giuseppe ; Pollazzon, Marzia ; Farooq, Muhammad...
Genes.  13 (2022)  4 - p. 634 , 2022
Link: https://doi.org/10.3390/..
 
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11

PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insi..:

Innella, Giovanni ; Bonora, Elena ; Neri, Iria...
Frontiers in Medicine.  8 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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12

Posterior Lissencephaly Associated with Subcortical Band He..:

Contrò, Gianluca ; Micalizzi, Alessia ; Giangiobbe, Sara...
Genes.  12 (2021)  8 - p. 1208 , 2021
Link: https://doi.org/10.3390/..
 
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13

Colorectal polyposis as a clue to the diagnosis of Cowden s..:

Innella, Giovanni ; Miccoli, Sara ; Colussi, Dora...
Pathology - Research and Practice.  218 (2021)  - p. 153339 , 2021
Link: https://doi.org/10.1016/..
 
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14

Whole Exome Sequencing Is the Minimal Technological Approac..:

Peluso, Francesca ; Caraffi, Stefano Giuseppe ; Zuntini, Roberta...
Genes.  12 (2021)  7 - p. 962 , 2021
Link: https://doi.org/10.3390/..
 
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15

Hundreds of nuclear and plastid loci yield novel insights i..:

Pérez‐Escobar, Oscar Alejandro ; Dodsworth, Steven ; Bogarín, Diego...
American Journal of Botany.  108 (2021)  7 - p. 1166-1180 , 2021
Link: https://doi.org/10.1002/..
 
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