E-LIB Suche - Ergebnisse für: Piceci‐Sparascio, Francesca

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/..

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/..

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/..

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/..

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...