E-LIB Suche - Ergebnisse für: Scatigno, Agnese

1

Huge mesenchymal hamartoma in a young adult: a case report:

Pinelli, Domenico ; Guerci, Claudio ; Cammarata, Francesco...
Journal of Surgical Case Reports. 2024 (2024) 4 - p. , 2024

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

2

Rock around DYRK1A: Ethnic diversity, clinical challenges:

Moroni, Alice ; Pezzani, Lidia ; Alfei, Enrico...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1459-1464 , 2023

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

3

Comparison of first‐tier whole‐exome sequencing with a mult..:

Rosina, Erica ; Pezzani, Lidia ; Apuril, Erika...
Molecular Genetics & Genomic Medicine. 12 (2023) 1 - p. , 2023

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

4

Double somatic mosaicism in Cornelia de Lange syndrome:

Pezzani, Lidia ; Pezzoli, Laura ; Rosina, Erica...
American Journal of Medical Genetics Part A. 194 (2023) 5 - p. , 2023

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

5

1102 ARRYTHMOGENIC CARDIOMYOPATHY: LESSONS FROM A LARGE FAM..:

Mancinelli, Antonella ; Scatigno, Agnese ; Iacovoni, Attilio...
European Heart Journal Supplements. 24 (2022) Supplement_K - p. , 2022

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

6

Atypical, Composite, or Blended Phenotypes: How Different M..:

Rosina, Erica ; Pezzani, Lidia ; Pezzoli, Laura...
Genes. 13 (2022) 7 - p. 1275 , 2022

Link: https://doi.org/10.3390/..

7

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A. ; Wang, Tianyun ; Hoekzema, Kendra...
Genome Medicine. 13 (2021) 1 - p. , 2021

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

8

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infant..:

Pezzoli, Laura ; Pezzani, Lidia ; Bonanomi, Ezio...
Journal of Cardiovascular Development and Disease. 9 (2021) 1 - p. 2 , 2021

Link: https://doi.org/10.3390/..

9

Double homozygosity in CEP57 and DYNC2H1 genes detected by ..:

Pezzani, Lidia ; Pezzoli, Laura ; Pansa, Alessandra...
Molecular Genetics & Genomic Medicine. 8 (2020) 3 - p. , 2020

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

10

14q32.3-qter trisomic segment: a case report and literature..:

Villa, Nicoletta ; Scatigno, Agnese ; Redaelli, Serena...
Molecular Cytogenetics. 9 (2016) 1 - p. , 2016

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

11

Interstitial 11q deletion: genomic characterization and neu..:

Nacinovich, Renata ; Villa, Nicoletta ; Redaelli, Serena...
BMC Research Notes. 7 (2014) 1 - p. , 2014

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

12

Two cases of hepatic adenomas in patients with wolf‐hirschh..:

Prunotto, Giulia ; Cianci, Paola ; Cereda, Anna...
American Journal of Medical Genetics Part A. 161 (2013) 7 - p. 1759-1762 , 2013

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

13

Atypical, Composite, or Blended Phenotypes: How Different M..:

Rosina, Erica ; Pezzani, Lidia ; Pezzoli, Laura...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319862/. , 2022

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

14

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A ; Wang, Tianyun ; Hoekzema, Kendra...
10.1186/s13073-021-00870-6. , 2021

Link: https://hdl.handle.net/1..

15

Rare deleterious mutations of HNRNP genes result in shared ..:

Gillentine, Madelyn A ; Wang, Tianyun ; Hoekzema, Kendra...
qt9ff2t46d. , 2021

Link: https://escholarship.org..