E-LIB Suche - Ergebnisse für: Amabile, Sonia

1

AChR-seropositive myasthenia gravis in muscular dystrophy: ..:

Avallone, Anna Rosa ; Di Stefano, Vincenzo ; Bevilacqua, Liliana...
Neurological Sciences. , 2024

Link: https://doi.org/10.1007/..

2

Whole-Exome Sequencing Revealed New Candidate Genes for Hum..:

D'Agostino, Ylenia ; Palumbo, Domenico ; Rusciano, Maria Rosaria...
Diagnostics. 12 (2022) 10 - p. 2411 , 2022

Link: https://doi.org/10.3390/..

3

Targeted molecular profiling of epithelial ovarian cancer f..:

Salvati, Annamaria ; Carnevali, Ileana ; Alexandrova, Elena...
Experimental and Molecular Pathology. 128 (2022) - p. 104833 , 2022

Link: https://doi.org/10.1016/..

4

Perinatal‐lethal Gaucher disease presenting with blueberry ..:

Rosanio, Francesco Maria ; D'Acunzo, Ida ; Mozzillo, Filomena...
Pediatric Dermatology. 38 (2021) 5 - p. 1357-1358 , 2021

Link: https://doi.org/10.1111/..

5

DYNC1H1‐related disorders: A description of four new unrela..:

Amabile, Sonia ; Jeffries, Lauren ; McGrath, James M....
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2049-2057 , 2020

Link: https://doi.org/10.1002/..

6

Detection of SRY‐positive46,XX male syndrome by the analysi..:

De Falco, Luigia ; Savarese, Giovanni ; Suero, Teresa...
Clinical Case Reports. 7 (2019) 10 - p. 1977-1981 , 2019

Link: https://doi.org/10.1002/..

7

iPSC-derived neurons profiling reveals GABAergic circuit di..:

Landucci, Elisa ; Brindisi, Margherita ; Bianciardi, Laura...
Experimental Cell Research. 368 (2018) 2 - p. 225-235 , 2018

Link: https://doi.org/10.1016/..

8

RAI1 gene mutations: mechanisms of Smith–Magenis Syndrome:

Falco, Mariateresa ; Amabile, Sonia ; Acquaviva, Fabio
The Application of Clinical Genetics. 10 (2017) - p. 85-94 , 2017

Link: https://doi.org/10.2147/..

9

Redox Imbalance and Morphological Changes in Skin Fibroblas..:

Signorini, Cinzia ; Leoncini, Silvia ; De Felice, Claudio...
Oxidative Medicine and Cellular Longevity. 2014 (2014) - p. 1-10 , 2014

Link: https://doi.org/10.1155/..

10

Interstitial 22q13 deletions not involving SHANK3 gene: A n..:

Disciglio, Vittoria ; Rizzo, Caterina Lo ; Mencarelli, Maria Antonietta...
American Journal of Medical Genetics Part A. 164 (2014) 7 - p. 1666-1676 , 2014

Link: https://doi.org/10.1002/..

11

Whole-Exome Sequencing Revealed New Candidate Genes for Hum..:

D'Agostino, Ylenia ; Palumbo, Domenico ; Rusciano, Maria Rosaria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600457/. , 2022

Link: http://www.ncbi.nlm.nih...

12

Detection of SRY‐positive46,XX male syndrome by the analysi..:

De Falco, Luigia ; Savarese, Giovanni ; Suero, Teresa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787777/. , 2019

Link: http://www.ncbi.nlm.nih...

13

iPSC-derived neurons profiling reveals GABAergic circuit di..:

Landucci, Elisa ; Brindisi, Margherita ; Bianciardi, Laura...
info:eu-repo/semantics/altIdentifier/pmid/29730163. , 2018

Link: http://hdl.handle.net/11..

14

iPSC-derived neurons profiling reveals GABAergic circuit di..:

Landucci, Elisa ; Brindisi, Margherita ; Bianciardi, Laura...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410763/. , 2018

Link: http://www.ncbi.nlm.nih...

15

iPSC-derived neurons profiling reveals GABAergic circuit di..:

Landucci, Elisa ; Brindisi, Margherita ; Bianciardi, Laura...
info:eu-repo/semantics/altIdentifier/pmid/29730163. , 2018

Link: http://hdl.handle.net/11..