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Stefano Giuseppe Caraffi
109
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Online (109)
Mediatypes
Articles (Online) (46)
OpenAccess-fulltext (63)
Sorted by: Relevance
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1
CaReL Guideline: A Consensus-Based Guideline on Case Report..:
Sakshi Prasad
;
Mahmoud Nassar
;
Ahmed Y. Azzam
...
Barw Medical Journal. , 2024
Link:
https://doi.org/10.58742..
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2
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/..
?
3
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/..
?
4
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/..
?
5
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/..
?
6
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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7
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/..
?
8
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/..
?
9
Severe Neurodevelopmental Disorder in Autosomal Recessive S..:
Cesaroni, Carlo Alberto
;
Pisanò, Giulia
;
Trimarchi, Gabriele
...
The Cerebellum. , 2023
Link:
https://doi.org/10.1007/..
?
10
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/..
?
11
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/..
?
12
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/..
?
13
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/..
?
14
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/..
?
15
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/..
1-15