E-LIB Suche - Ergebnisse für: Pappi, Patrizia

1

A case of Feingold type 2 syndrome associated with keratoco..:

Sirchia, Fabio ; Di Gregorio, Eleonora ; Restagno, Gabriella...
European Journal of Medical Genetics. 60 (2017) 4 - p. 224-227 , 2017

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

2

A novel 3q29 deletion associated with autism, intellectual ..:

Biamino, Elisa ; Di Gregorio, Eleonora ; Belligni, Elga Fabia...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 171 (2015) 2 - p. 290-299 , 2015

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

3

Large cryptic genomic rearrangements with apparently normal..:

Di Gregorio, Eleonora ; Savin, Elisa ; Biamino, Elisa...
Molecular Cytogenetics. 7 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

4

HDR syndrome: A novel "de novo" mutation in GATA3 gene:

Ferraris, Silvio ; Del monaco, Angelo Giovanni ; Garelli, Emanuela...
American Journal of Medical Genetics Part A. 149A (2009) 4 - p. 770-775 , 2009

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

5

Large Genomic Mutations within the ATM Gene Detected by MLP..:

Cavalieri, Simona ; Funaro, Ada ; Pappi, Patrizia...
Annals of Human Genetics. 72 (2008) 1 - p. 10-18 , 2008

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

6

A case of Feingold type 2 syndrome associated with keratoco..:

SIRCHIA, Fabio ; DI GREGORIO, ELEONORA ; restagno, gabriella...
info:eu-repo/semantics/altIdentifier/pmid/28159702. , 2017

Link: http://hdl.handle.net/23..

7

Copy number variants analysis in a cohort of isolated and s..:

DI GREGORIO, ELEONORA ; RIBERI, EVELISE ; BELLIGNI, ELGA FABIA...
info:eu-repo/semantics/altIdentifier/pmid/28295210. , 2017

Link: http://hdl.handle.net/23..

8

A novel 3q29 deletion associated with autism, intellectual ..:

BIAMINO, ELISA ; DI GREGORIO, ELEONORA ; BELLIGNI, ELGA FABIA...
info:eu-repo/semantics/altIdentifier/pmid/26620927. , 2016

Link: http://hdl.handle.net/23..

9

Array-Comparative Genomic Hybridization Analysis in Fetuses..:

DI GREGORIO, ELEONORA ; Gai, Giorgia ; Botta, Giovanni...
info:eu-repo/semantics/altIdentifier/pmid/26658296. , 2015

Link: http://hdl.handle.net/23..

10

Large cryptic genomic rearrangements with apparently normal..:

Di Gregorio, Eleonora ; Savin, Elisa ; Biamino, Elisa...
http://www.molecularcytogenetics.org/content/7/1/82. , 2014

Link: http://www.molecularcyto..

11

High frequency of ribosomal protein gene deletions in Itali..:

Quarello, Paola ; Garelli, Emanuela ; Brusco, Alfredo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590087. , 2012

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

12

MISSENSE MUTATIONS IN THE AFG3L2 PROTEOLYTIC DOMAIN ACCOUNT..:

Cagnoli, Claudia ; Stevanin, Giovanni ; Brussino, Alessandro...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21342. , 2010

Link: https://hal.science/hal-..

13

MISSENSE MUTATIONS IN THE AFG3L2 PROTEOLYTIC DOMAIN ACCOUNT..:

Cagnoli, Claudia ; Stevanin, Giovanni ; Brussino, Alessandro...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21342. , 2010

Link: https://hal.science/hal-..

14

Multiplex Ligation-dependent Probe Amplification (MLPA) enh..:

QUARELLO, Paola ; GARELLI, Emanuela ; BRUSCO, Alfredo...
info:eu-repo/semantics/altIdentifier/pmid/18835835. , 2008

Link: http://hdl.handle.net/23..

15

Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can ..:

Cagnoli, Claudia ; Stevanin, Giovanni ; Michielotto, Chiara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867568. , 2006

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