E-LIB Suche - Ergebnisse für: Sirleto, Pietro

1

Assessing clinical utility of preconception expanded carrie..:

Boonsawat, Paranchai ; Horn, Anselm H. C. ; Steindl, Katharina...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

2

Genome-wide non-invasive prenatal testing in single- and mu..:

Oneda, Beatrice ; Sirleto, Pietro ; Baldinger, Rosa...
European Journal of Obstetrics & Gynecology and Reproductive Biology. 252 (2020) - p. 19-29 , 2020

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

3

Role of molecular testing in the multidisciplinary diagnost..:

Diociaiuti, Andrea ; El Hachem, May ; Pisaneschi, Elisa...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

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

4

Resistance to neoplastic transformation ofex-vivoexpanded h..:

Conforti, Antonella ; Starc, Nadia ; Biagini, Simone...
Oncotarget. 7 (2016) 47 - p. 77416-77429 , 2016

Link: https://doi.org/10.18632..

5

Advantages of a next generation sequencing targeted approac..:

Grotta, Simona ; D'Elia, Gemma ; Scavelli, Rossana...
BMC Cancer. 15 (2015) 1 - p. , 2015

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

6

Hypoplastic left heart syndrome and 21q22.3 deletion:

Ciocca, Laura ; Digilio, M. Cristina ; Lombardo, Antonietta...
American Journal of Medical Genetics Part A. 167 (2015) 3 - p. 579-586 , 2015

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

7

CHARGE syndrome due to deletion of region upstream of CHD7 ..:

Pisaneschi, Elisa ; Sirleto, Pietro ; Lepri, Francesca Romana...
BMC Medical Genetics. 16 (2015) 1 - p. , 2015

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

8

Borderline cognitive level in a family with Bazex‐Dupré‐Chr..:

Gonfiantini, Michaela Veronika ; Armando, Marco ; Pucciarini, Maria Laura...
American Journal of Medical Genetics Part A. 167 (2015) 7 - p. 1637-1643 , 2015

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

9

Comprehensive characterization of mesenchymal stromal cells..:

Mantelli, Melissa ; Avanzini, Maria Antonia ; Rosti, Vittorio...
British Journal of Haematology. 170 (2015) 6 - p. 826-836 , 2015

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

10

Telomere shortening and telomere position effect in mild ri..:

Surace, Cecilia ; Berardinelli, Francesco ; Masotti, Andrea...
Epigenetics & Chromatin. 7 (2014) 1 - p. , 2014

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

11

Identification of TBX5 mutations in a series of 94 patients..:

Baban, Anwar ; Postma, Alex Vincent ; Marini, Monica...
American Journal of Medical Genetics Part A. 164 (2014) 12 - p. 3100-3107 , 2014

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

12

Usp7 protects genomic stability by regulating Bub3:

Giovinazzi, Serena ; Sirleto, Pietro ; Aksenova, Vasilisa...
Oncotarget. 5 (2014) 11 - p. 3728-3742 , 2014

Link: https://doi.org/10.18632..

13

Epilepsy in Patients With Duplications of Chromosome 14 Har..:

Pontrelli, Giuseppe ; Cappelletti, Simona ; Claps, Dianela...
Pediatric Neurology. 50 (2014) 5 - p. 530-535 , 2014

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

14

Diagnosis of Noonan syndrome and related disorders using ta..:

Lepri, Francesca Romana ; Scavelli, Rossana ; Digilio, Maria Cristina...
BMC Medical Genetics. 15 (2014) 1 - p. , 2014

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

15

Two novel cases of trilateral retinoblastoma: genetics and ..:

D'Elia, Gemma ; Grotta, Simona ; Del Bufalo, Francesca...
Cancer Genetics. 206 (2013) 11 - p. 398-401 , 2013

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