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Piceci‐Sparascio, Francesca
17
results:
Search for persons
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Format
Online (17)
Mediatypes
Articles (Online) (7)
OpenAccess-fulltext (10)
Sorted by: Relevance
Sorted by: Year
?
1
Heterozygosity for loss-of-function variants in LZTR1 is as..:
Mastromoro, Gioia
;
Santoro, Claudia
;
Motta, Marialetizia
...
Genetics in Medicine. , 2024
Link:
https://doi.org/10.1016/..
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2
FOXI3 pathogenic variants cause one form of craniofacial mi..:
Mao, Ke
;
Borel, Christelle
;
Ansar, Muhammad
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
3
A novel ANO3 variant in two siblings with different phenoty..:
Esposito, Marcello
;
Trinchillo, Assunta
;
Piceci-Sparascio, Francesca
...
Parkinsonism & Related Disorders. 111 (2023) - p. 105413 , 2023
Link:
https://doi.org/10.1016/..
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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/..
?
5
Mutations in SCNM1 cause orofaciodigital syndrome due to mi..:
Iturrate, Asier
;
Rivera-Barahona, Ana
;
Flores, Carmen-Lisset
...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1828-1849 , 2022
Link:
https://doi.org/10.1016/..
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6
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Pati..:
Guida, Valentina
;
Calzari, Luciano
;
Fadda, Maria Teresa
...
International Journal of Molecular Sciences. 22 (2021) 3 - p. 1190 , 2021
Link:
https://doi.org/10.3390/..
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7
GLI1 inactivation is associated with developmental phenotyp..:
Palencia-Campos, Adrian
;
Ullah, Asmat
;
Nevado, Julian
...
Human Molecular Genetics. 26 (2017) 23 - p. 4556-4571 , 2017
Link:
https://doi.org/10.1093/..
?
8
FOXI3 pathogenic variants cause one form of craniofacial mi..:
Mao, Ke
;
Borel, Christelle
;
Ansar, Muhammad
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090152/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
9
FOXI3 pathogenic variants cause one form of craniofacial mi..:
Ke Mao
;
Christelle Borel
;
Muhammad Ansar
...
https://doi.org/10.1038/s41467-023-37703-6. , 2023
Link:
https://doi.org/10.1038/..
?
10
Mutations in SCNM1 cause orofaciodigital syndrome due to mi..:
Iturrate, Asier
;
Rivera-Barahona, Ana
;
Flores, Carmen-Lisset
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606384/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
11
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Pati..:
Valentina Guida
;
Luciano Calzari
;
Maria Teresa Fadda
...
https://www.mdpi.com/1422-0067/22/3/1190. , 2021
Link:
https://doi.org/10.3390/..
?
12
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Pati..:
Guida, Valentina
;
Calzari, Luciano
;
Fadda, Maria Teresa
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7866060/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
13
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Pati..:
Valentina Guida
;
Luciano Calzari
;
Maria Teresa Fadda
...
Molecular Genetics and Genomics. , 2021
Link:
https://doi.org/10.3390/..
?
14
Germline and Mosaic Variants in PRKACA and PRKACB Cause a M..:
Palencia-Campos, Adrian
;
Aoto, Phillip C
;
Machal, Erik M.F
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7675002/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
15
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorde..:
Motta, Marialetizia
;
Pannone, Luca
;
Pantaleoni, Francesca
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477014/. , 2020
Link:
http://www.ncbi.nlm.nih...
1-15