E-LIB Suche - Ergebnisse für: Bonaglia, M. Clara

1

Common structural features characterize interstitial intrac..:

Giorda, Roberto ; Beri, Silvana ; Bonaglia, M. Clara...
American Journal of Medical Genetics Part A. 155 (2011) 11 - p. 2681-2687 , 2011

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

2

De novo unbalanced translocations have a complex history/ae..:

Bonaglia, Maria Clara ; Kurtas, Nehir Edibe ; Errichiello, Edoardo...
Human Genetics. 137 (2018) 10 - p. 817-829 , 2018

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

3

NGS mapped breakpoints in balanced chromosomal rearrangemen..:

Tommerup, Niels ; Fonseca, Ana Carolina ; Mehrjouy, Mana...
Molecular Cytogenetics. , 2017

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

4

The Enhanced Resolution Imager and Spectrograph for the VLT:

Davies, R. ; Absil, O. ; Agapito, G....
Astronomy & Astrophysics. 674 (2023) - p. A207 , 2023

Link: https://doi.org/10.1051/..

5

Orbital and dynamical analysis of the system around HR 8799..:

Zurlo, A. ; Goździewski, K. ; Lazzoni, C....
Astronomy & Astrophysics. 666 (2022) - p. A133 , 2022

Link: https://doi.org/10.1051/..

6

Resolving the host galaxy of a distant blazar with LBT/LUCI..:

Farina, E P ; Georgiev, I Y ; Decarli, R...
Monthly Notices of the Royal Astronomical Society. 476 (2018) 2 - p. 1835-1839 , 2018

Link: https://doi.org/10.1093/..

7

Inverted duplications deletions: underdiagnosed rearrangeme..:

Zuffardi, O ; Bonaglia, M ; Ciccone, R.
Clinical Genetics. 75 (2009) 6 - p. 505-513 , 2009

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

8

Diagnostic application of a capture based NGS test for the ..:

Vetro, A. ; Goidin, D. ; Lesende, I....
Clinical Genetics. 93 (2017) 3 - p. 545-556 , 2017

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

9

Electroclinical pattern in MECP2 duplication syndrome: Eigh..:

Vignoli, Aglaia ; Borgatti, Renato ; Peron, Angela...
Epilepsia. 53 (2012) 7 - p. 1146-1155 , 2012

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

10

Chromosome 22q13 Rearrangements Causing Global Developmenta..:

, In: Genetics of Mental Retardation; Monographs in Human Genetics,

Bonaglia, M.C. ; Giorda, R. ; Ciccone, R.. - p. 137-150 , 2010

Link: https://doi.org/10.1159/..

11

Long-term balancing selection maintains trans-specific poly..:

Cagliani, R. ; Fumagalli, M. ; Biasin, M....
Human Genetics. 128 (2010) 6 - p. 577-588 , 2010

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

12

Molecular analysis of LGMD-2B and MM patients: identificati..:

Cagliani, R ; Fortunato, F ; Giorda, R...
Neuromuscular Disorders. 13 (2003) 10 - p. 788-795 , 2003

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

13

De novo double translocation 3;13 and 4;8;18 in a patient w..:

Battisti, C. ; Bonaglia, M.C. ; Giglio, S....
American Journal of Medical Genetics Part A. 117A (2003) 3 - p. 207-211 , 2003

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

14

Two dystrophin proteins and transcripts in a mild dystrophi..:

Cagliani, R ; Bardoni, A ; Sironi, M...
Neuromuscular Disorders. 13 (2003) 1 - p. 13-16 , 2003

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

15

Ring chromosome 9: An atypical case:

Lanzi, Giovanni ; Fazzi, Elisa ; Veggiotti, Pierangelo...
Brain and Development. 18 (1996) 3 - p. 216-219 , 1996

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