E-LIB Suche - Ergebnisse für: Niceta M

1

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐v..:

Niceta, M. ; Margiotti, K. ; Digilio, M.C....
Clinical Genetics. 93 (2018) 3 - p. 632-639 , 2018

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

2

De novo T362R mutation in MORC2 causes early onset cerebell..:

Zanni, G. ; Nardella, M. ; Niceta, M....
European Journal of Paediatric Neurology. 21 (2017) - p. e236 , 2017

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

3

Mutations in the IRBIT domain of ITPR1 are a frequent cause..:

Barresi, S. ; Niceta, M. ; Alfieri, P....
Clinical Genetics. 91 (2016) 1 - p. 86-91 , 2016

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

4

Microcephaly, intractable seizures and developmental delay ..:

Pode‐Shakked, B. ; Barash, H. ; Ziv, L....
Clinical Genetics. 91 (2016) 5 - p. 725-738 , 2016

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

5

A novel mutation in NDUFB11 unveils a new clinical phenotyp..:

Torraco, A. ; Bianchi, M. ; Verrigni, D....
Clinical Genetics. 91 (2016) 3 - p. 441-447 , 2016

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

6

DJ‐1 modulates mitochondrial response to oxidative stress: ..:

Di Nottia, M. ; Masciullo, M. ; Verrigni, D....
Clinical Genetics. 92 (2016) 1 - p. 18-25 , 2016

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

7

Distal spinal muscular atrophy and ataxia with cerebellar a..:

Bertini, E. ; Sferra, A. ; Rizza, T....
Neuromuscular Disorders. 25 (2015) - p. S222 , 2015

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

8

891 PIVOT ROLE OF PAI 1 4G4G IN NON-CIRRHOTIC PORTAL VEIN T..:

D'Amico, M. ; Niceta, M. ; Sammarco, P...
Journal of Hepatology. 54 (2011) - p. S355 , 2011

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

9

Epidemiological study of nonsyndromic hearing loss in Sicil..:

Niceta, M. ; Fabiano, C. ; Sammarco, P....
American Journal of Medical Genetics Part A. 143A (2007) 14 - p. 1666-1670 , 2007

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

10

Evaluation of Serum CA 125 Levels in Patients with Pelvic P..:

Maiorana, A. ; Cicerone, C. ; Niceta, M..
The International Journal of Biological Markers. 22 (2007) 3 - p. 200-202 , 2007

Link: https://doi.org/10.1177/..

11

Case report: Novel compound heterozygosity for pathogenic v..:

Salzano E ; Niceta M ; Pizzi S...
info:eu-repo/semantics/altIdentifier/pmid/36824420. , 2023

Link: https://hdl.handle.net/1..

12

Clinical Utility of a Unique Genome-Wide DNA Methylation Si..:

Foroutan A ; Haghshenas S ; Bhai P...
info:eu-repo/semantics/altIdentifier/pmid/35163737. , 2022

Link: http://hdl.handle.net/24..

13

Biallelic variants in ZNF142 lead to a syndromic neurodevel..:

Christensen, MB ; Levy, AM ; Mohammadi, NA...
https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdf. , 2022

Link: https://openaccess.sgul...

14

Clinical Utility of a Unique Genome-Wide DNA Methylation Si..:

Foroutan A ; Haghshenas S ; Bhai P...
info:eu-repo/semantics/altIdentifier/pmid/35163737. , 2022

Link: http://hdl.handle.net/10..

15

Childhood-onset dystonia-causing KMT2B variants result in a..:

Ciolfi A ; Foroutan A ; Capuano A...
info:eu-repo/semantics/altIdentifier/pmid/34380541. , 2021

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