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Caraffi, Stefano G
48
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1
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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2
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/..
?
3
Human Cytomegalovirus DNA Polymerase Catalytic Subunit pUL5..:
Alvisi, Gualtiero
;
Ripalti, Alessandro
;
Ngankeu, Apollinaire
...
Traffic. 7 (2006) 10 - p. 1322-1332 , 2006
Link:
https://doi.org/10.1111/..
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4
Clinical and Molecular Diagnosis of Osteocraniostenosis in ..:
Rosato, Simonetta
;
Unger, Sheila
;
Campos-Xavier, Belinda
...
Genes. 13 (2022) 2 - p. 261 , 2022
Link:
https://doi.org/10.3390/..
?
5
Genetic Epilepsies and Developmental Epileptic Encephalopat..:
Cavirani, Benedetta
;
Spagnoli, Carlotta
;
Caraffi, Stefano Giuseppe
...
International Journal of Molecular Sciences. 25 (2024) 2 - p. 1248 , 2024
Link:
https://doi.org/10.3390/..
?
6
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/..
?
7
Heterozygous truncating variant of TAOK1 in a boy with peri..:
Cavalli, Anna
;
Caraffi, Stefano Giuseppe
;
Rizzi, Susanna
...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
8
Clinico-biological refinement of BCL11B-related disorder an..:
Sabbagh, Quentin
;
Haghshenas, Sadegheh
;
Piard, Juliette
...
Genetics in Medicine. 26 (2024) 1 - p. 101007 , 2024
Link:
https://doi.org/10.1016/..
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9
Early-onset dysphagia and severe neurodevelopmental disorde..:
Cesaroni, Carlo Alberto
;
Contrò, Gianluca
;
Spagnoli, Carlotta
...
Neurogenetics. 25 (2024) 3 - p. 287-291 , 2024
Link:
https://doi.org/10.1007/..
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10
A novel TRIP4 Variant Associated with Peripheral Neuropathy..:
Frongia, Ivana
;
Spagnoli, Carlotta
;
Rizzi, Susanna
...
Journal of Neuromuscular Diseases. 11 (2024) 1 - p. 213-219 , 2024
Link:
https://doi.org/10.3233/..
?
11
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/..
?
12
Severe Neurodevelopmental Disorder in Autosomal Recessive S..:
Cesaroni, Carlo Alberto
;
Pisanò, Giulia
;
Trimarchi, Gabriele
...
The Cerebellum. , 2023
Link:
https://doi.org/10.1007/..
?
13
Identification of bi‐allelic LFNG variants in three patient..:
Lecca, Mauro
;
Bedeschi, Maria Francesca
;
Izzi, Claudia
...
Clinical Genetics. 104 (2023) 2 - p. 230-237 , 2023
Link:
https://doi.org/10.1111/..
?
14
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21...:
Ambrosetti, Irene
;
Bernardini, Laura
;
Pollazzon, Marzia
...
Genes. 14 (2023) 8 - p. 1526 , 2023
Link:
https://doi.org/10.3390/..
?
15
Diprosopus: A Rare Case of Craniofacial Duplication and a S..:
Trevisani, Viola
;
Balestri, Eleonora
;
Napoli, Manuela
...
Genes. 14 (2023) 9 - p. 1745 , 2023
Link:
https://doi.org/10.3390/..
1-15