E-LIB Suche - Ergebnisse für: Cavani, Simona

1

Positive predictive values and outcomes for uninformative c..:

Grati, Francesca Romana ; Bestetti, Ilaria ; De Siero, Daria...
Prenatal Diagnosis. 42 (2022) 13 - p. 1575-1586 , 2022

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

2

Children and Adults Affected by Cri Du Chat Syndrome: Care'..:

Liverani, Maria Elena ; Spano, Alice ; Danesino, Cesare...
Pediatric Reports. 11 (2019) 1 - p. 7839 , 2019

Link: https://doi.org/10.4081/..

3

Concentration‐dependent metabolic effects of metformin in h..:

Ravera, Silvia ; Cossu, Vanessa ; Tappino, Barbara...
Journal of Cellular Physiology. 233 (2017) 2 - p. 1736-1751 , 2017

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

4

Expanding the phenotype of reciprocal 1q21.1 deletions and ..:

Busè, Martina ; Cuttaia, Helenia C. ; Palazzo, Daniela...
Italian Journal of Pediatrics. 43 (2017) 1 - p. , 2017

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

5

Brachydactyly type E in an Italian family with 6p25 trisomy:

Fontana, Paolo ; Tortora, Cristina ; Petillo, Roberta...
European Journal of Medical Genetics. 60 (2017) 3 - p. 195-199 , 2017

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

6

Microdeletion 2q23.3q24.1: Exploring genotype‐phenotype cor..:

Milani, Donatella ; Sabatini, Caterina ; Manzoni, Francesca Maria Paola...
Congenital Anomalies. 55 (2015) 2 - p. 107-111 , 2015

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

7

Characterization of a complex rearrangement involving chrom..:

Viaggi, Chiara Donatella ; Cavani, Simona ; Pierluigi, Mauro...
Journal of Applied Genetics. 53 (2012) 3 - p. 285-288 , 2012

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

8

14q13.1‐21.1 deletion encompassing the HPE8 locus in an ado..:

Piccione, Maria ; Serra, Gregorio ; Consiglio, Valeria...
American Journal of Medical Genetics Part A. 158A (2012) 6 - p. 1427-1433 , 2012

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

9

Interstitial deletion of chromosome 2p15-16.1: Report of tw..:

Piccione, Maria ; Piro, Ettore ; Serraino, Francesca...
European Journal of Medical Genetics. 55 (2012) 4 - p. 238-244 , 2012

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

10

A 12.4 Mb direct duplication in 19q12-q13 in a boy with car..:

Lugli, Licia ; Malacarne, Michela ; Cavani, Simona...
Journal of Applied Genetics. 52 (2011) 3 - p. 335-339 , 2011

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

11

The first case of myoclonic epilepsy in a child with a de n..:

Piccione, Maria ; Vecchio, Davide ; Cavani, Simona...
American Journal of Medical Genetics Part A. 155 (2011) 12 - p. 3054-3059 , 2011

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

12

Molecular and clinical characterization of a small duplicat..:

PICCIONE, MARIA ; SANFILIPPO, CINZIA ; CAVANI, SIMONA...
Journal of Genetics. 90 (2011) 3 - p. 473-477 , 2011

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

13

Array‐CGH defined chromosome 1p duplication in a patient wi..:

Piccione, Maria ; Antona, Vincenzo ; Antona, Roberta...
American Journal of Medical Genetics Part A. 152A (2010) 2 - p. 486-489 , 2010

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

14

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inver..:

Cavani, Simona ; Prontera, Paolo ; Grasso, Marina...
American Journal of Medical Genetics Part A. 155 (2010) 1 - p. 221-224 , 2010

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

15

10qter deletion: A new case:

Piccione, Maria ; Antona, Vincenzo ; Piro, Ettore...
American Journal of Medical Genetics Part A. 146A (2008) 18 - p. 2435-2438 , 2008

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