E-LIB Suche - Ergebnisse für: Cuoco, Cristina

1

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1..:

Tassano, Elisa ; Accogli, Andrea ; Pavanello, Marco...
European Journal of Medical Genetics. 59 (2016) 1 - p. 20-25 , 2016

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

2

Interstitial de novo 18q22.3q23 deletion: clinical, neurora..:

Tassano, Elisa ; Severino, Mariasavina ; Rosina, Silvia...
Molecular Cytogenetics. 9 (2016) 1 - p. , 2016

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

3

Interstitial 11q24 deletion: a new case and review of the l..:

Tassano, Elisa ; Janis, Sara ; Canepa, Alberto...
Journal of Applied Genetics. 57 (2016) 3 - p. 357-362 , 2016

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

4

Concomitant deletion of chromosome 16p13.11 and triplicatio..:

Tassano, Elisa ; De Santis, Lucia ; Corona, Maria...
Molecular Cytogenetics. 8 (2015) 1 - p. 9 , 2015

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

5

Congenital aural atresia associated with agenesis of intern..:

Tassano, Elisa ; Jagannathan, Vidhya ; Drögemüller, Cord...
American Journal of Medical Genetics Part A. 167 (2015) 3 - p. 537-544 , 2015

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

6

Clinical and molecular characterization of a patient with i..:

Tassano, Elisa ; Mirabelli-Badenier, Marisol ; Veneselli, Edvige...
Molecular Cytogenetics. 8 (2015) 1 - p. , 2015

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

7

Clinico-radiological and molecular characterization of a ch..:

Severino, Mariasavina ; Accogli, Andrea ; Gimelli, Giorgio...
Molecular Cytogenetics. 8 (2015) 1 - p. , 2015

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

8

Mucopolysaccharidosis type II in a female patient with a re..:

Lonardo, Fortunato ; Di Natale, Paola ; Lualdi, Susanna...
American Journal of Medical Genetics Part A. 164 (2014) 10 - p. 2627-2632 , 2014

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

9

Interstitial 7q31.1 copy number variations disrupting IMMP2..:

Gimelli, Stefania ; Capra, Valeria ; Di Rocco, Maja...
Molecular Cytogenetics. 7 (2014) 1 - p. , 2014

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

10

RORB gene and 9q21.13 microdeletion: Report on a patient wi..:

Baglietto, Maria Giuseppina ; Caridi, Gianluca ; Gimelli, Giorgio...
European Journal of Medical Genetics. 57 (2014) 1 - p. 44-46 , 2014

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

11

Heterozygous deletion of CHL1 gene: Detailed array-CGH and ..:

Tassano, Elisa ; Biancheri, Roberta ; Denegri, Laura...
European Journal of Medical Genetics. 57 (2014) 11-12 - p. 626-629 , 2014

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

12

Phenotypic and genetic characterization of a patient with a..:

Tassano, Elisa ; Accogli, Andrea ; Panigada, Serena...
Molecular Cytogenetics. 7 (2014) 1 - p. 49 , 2014

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

13

Interstitial 2q24.3 deletion including SCN2A and SCN3A gene..:

Celle, Maria Elena ; Cuoco, Cristina ; Porta, Simona..
Gene. 532 (2013) 2 - p. 294-296 , 2013

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

14

Recurrent microdeletion 2q21.1: Report on a new patient wit..:

Gimelli, Stefania ; Stathaki, Elisavet ; Béna, Frédérique...
American Journal of Medical Genetics Part A. 164 (2013) 3 - p. 801-805 , 2013

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

15

A rare 3q13.31 microdeletion including GAP43 and LSAMP gene:

Gimelli, Stefania ; Leoni, Massimiliano ; Di Rocco, Maja...
Molecular Cytogenetics. 6 (2013) 1 - p. , 2013

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