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Pezzani, Lidia
42  results:
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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
Link: https://doi.org/10.1007/..
 
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2

CATSHL syndrome, a new family and phenotypic expansion:

Cannova, Silvia ; Meossi, Camilla ; Grilli, Federico...
Clinical Genetics.  , 2023
Link: https://doi.org/10.1111/..
 
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3

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/..
 
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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/..
 
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5

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/..
 
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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/..
 
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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/..
 
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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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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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/..
 
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13

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/..
 
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14

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/..
 
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15

7p22.1 microduplication syndrome: Refinement of the critica..:

Ronzoni, Luisa ; Grassi, Francesca Sofia ; Pezzani, Lidia...
European Journal of Medical Genetics.  60 (2017)  2 - p. 114-117 , 2017
Link: https://doi.org/10.1016/..
 
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