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Cereda, Anna
354  results:
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1

A clustering of heterozygous missense variants in the cruci..:

Snijders Blok, Lot ; Verseput, Jolijn ; Rots, Dmitrijs...
Human Genetics and Genomics Advances.  4 (2023)  1 - p. 100157 , 2023
Link: https://doi.org/10.1016/..
 
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2

ARF1-related disorder: phenotypic and molecular spectrum:

de Sainte Agathe, Jean-Madeleine ; Pode-Shakked, Ben ; Naudion, Sophie...
Journal of Medical Genetics.  60 (2023)  10 - p. 999-1005 , 2023
Link: https://doi.org/10.1136/..
 
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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/..
 
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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/..
 
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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

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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7

Celiac disease prevalence and predisposing‐HLA in a cohort ..:

Ghisleni, Cecilia ; Parma, Barbara ; Cianci, Paola...
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 84-89 , 2022
Link: https://doi.org/10.1002/..
 
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8

Defining the genotypic and phenotypic spectrum of X-linked ..:

Brunet, Theresa ; McWalter, Kirsty ; Mayerhanser, Katharina...
Genetics in Medicine.  23 (2021)  2 - p. 384-395 , 2021
Link: https://doi.org/10.1038/..
 
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9

Lithium as a possible therapeutic strategy for Cornelia de ..:

Grazioli, Paolo ; Parodi, Chiara ; Mariani, Milena...
Cell Death Discovery.  7 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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10

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/..
 
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11

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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12

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype ..:

Ajmone, Paola Francesca ; Allegri, Beatrice ; Cereda, Anna...
Journal of Autism and Developmental Disorders.  52 (2021)  11 - p. 4763-4773 , 2021
Link: https://doi.org/10.1007/..
 
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13

Complex nutritional deficiencies in a large cohort of Itali..:

Parma, Barbara ; Cianci, Paola ; Decimi, Valentina...
American Journal of Medical Genetics Part A.  182 (2020)  9 - p. 2094-2101 , 2020
Link: https://doi.org/10.1002/..
 
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14

Nissen fundoplication in Cornelia de Lange syndrome spectru..:

Parma, Barbara ; Cianci, Paola ; Mariani, Milena...
American Journal of Medical Genetics Part A.  182 (2020)  7 - p. 1697-1703 , 2020
Link: https://doi.org/10.1002/..
 
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15

Phenotypic spectrum and transcriptomic profile associated w..:

Castilla-Vallmanya, Laura ; Selmer, Kaja K. ; Dimartino, Clémantine...
Genetics in Medicine.  22 (2020)  7 - p. 1215-1226 , 2020
Link: https://doi.org/10.1038/..
 
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