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Laura Pezzoli
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1

The Phenotype-Based Approach Can Solve Cold Cases: The Para..:

Marchetti, Giulia Bruna ; Milani, Donatella ; Pisciotta, Livia...
Genes.  15 (2024)  6 - p. 654 , 2024
Link: https://doi.org/10.3390/..
 
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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/..
 
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3

A biallelic variant in COX18 cause isolated Complex IV defi..:

Ronchi, Dario ; Garbellini, Manuela ; Magri, Francesca...
European Journal of Human Genetics.  31 (2023)  12 - p. 1414-1420 , 2023
Link: https://doi.org/10.1038/..
 
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4

DSP-Related Cardiomyopathy as a Distinct Clinical Entity? E..:

Di Lorenzo, Francesca ; Marchionni, Enrica ; Ferradini, Valentina...
International Journal of Molecular Sciences.  24 (2023)  3 - p. 2490 , 2023
Link: https://doi.org/10.3390/..
 
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5

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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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

Prenatal ultrasound findings associated with PIGW variants:..:

Ronzoni, Luisa ; Boito, Simona ; Meossi, Camilla...
Prenatal Diagnosis.  42 (2022)  12 - p. 1493-1502 , 2022
Link: https://doi.org/10.1002/..
 
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8

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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9

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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10

Intermittent granulocyte maturation arrest, hypocellular bo..:

Saettini, Francesco ; Cattoni, Alessandro ; D'Angio', Mariella...
British Journal of Haematology.  189 (2020)  4 - p. , 2020
Link: https://doi.org/10.1111/..
 
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11

Missense NR2F1 variant in monozygotic twins affected with t..:

Mio, Catia ; Fogolari, Federico ; Pezzoli, Laura...
Molecular Genetics & Genomic Medicine.  8 (2020)  7 - p. , 2020
Link: https://doi.org/10.1002/..
 
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12

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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13

Role of Preoperative Cardiovascular Magnetic Resonance in P..:

Spirito, Paolo ; Binaco, Irene ; Poggio, Daniele...
The American Journal of Cardiology.  123 (2019)  9 - p. 1517-1526 , 2019
Link: https://doi.org/10.1016/..
 
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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

A Novel HRAS Mutation Independently Contributes to Left Ven..:

Sana, Maria Elena ; Quilliam, Lawrence A. ; Spitaleri, Andrea...
PLOS ONE.  11 (2016)  12 - p. e0168501 , 2016
Link: https://doi.org/10.1371/..
 
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