E-LIB Suche - Ergebnisse für: Pezzani, Lidia

1

Characterization of a novel HDAC2 pathogenetic variant: a m..:

Di Fede, Elisabetta ; Lettieri, Antonella ; Taci, Esi...
Human Genetics. 143 (2024) 6 - p. 747-759 , 2024

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

CATSHL syndrome, a new family and phenotypic expansion:

Cannova, Silvia ; Meossi, Camilla ; Grilli, Federico...
Clinical Genetics. , 2023

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

4

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/..

5

De novo variants in CNOT9 cause a neurodevelopmental disord..:

von Wintzingerode, Lydia ; Ben-Zeev, Bruria ; Cesario, Claudia...
Genetics in Medicine. 25 (2023) 7 - p. 100859 , 2023

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

6

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/..

7

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/..

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

Aortic dilation in Sotos syndrome: An underestimated featur..:

Pezzani, Lidia ; Mauri, Lucia ; Selicorni, Angelo...
American Journal of Medical Genetics Part A. 182 (2020) 7 - p. 1819-1823 , 2020

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

10

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/..

11

Epidemiology of Neurofibromatosis Type 1:

, In: Multidisciplinary Approach to Neurofibromatosis Type 1,

Pezzani, Lidia ; Milani, Donatella - p. 1-4 , 2020

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

12

A novel nonsense and inactivating variant of ST3GAL3 in two..:

Indellicato, Rossella ; Domenighini, Ruben ; Malagolini, Nadia...
Glycobiology. 30 (2019) 2 - p. 95-104 , 2019

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

13

Atypical presentation of pediatric BRAF RASopathy with acut..:

Pezzani, Lidia ; Marchetti, Daniela ; Cereda, Anna...
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2867-2871 , 2018

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

14

A HS6ST2 gene variant associated with X‐linked intellectual..:

Paganini, Leda ; Hadi, Loubna A. ; Chetta, Massimiliano...
Clinical Genetics. 95 (2018) 3 - p. 368-374 , 2018

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

15

Sequence variants identification at the KCNQ1OT1:TSS differ..:

Bedeschi, Maria Francesca ; Calvello, Mariarosaria ; Paganini, Leda...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017

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