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Dentici, Maria L.
162  results:
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1

Loss-of-function variants in ERF are associated with a Noon..:

Dentici, Maria Lisa ; Niceta, Marcello ; Lepri, Francesca Romana...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

PTCHD1 gene mutation/deletion: the cognitive-behavioral phe..:

Montanaro, Federica Alice Maria ; Mandarino, Alessandra ; Alesi, Viola...
Frontiers in Psychiatry.  14 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

Congenital Heart Defects in Patients with Molecularly Confi..:

Calcagni, Giulio ; Ferrigno, Federica ; Franceschini, Alessio...
Diagnostics.  14 (2024)  6 - p. 594 , 2024
Link: https://doi.org/10.3390/..
 
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4

Case report: A new de novo 6q21q22.1 interstitial deletion ..:

Minotti, Chiara ; Graziani, Ludovico ; Sallicandro, Ester...
Frontiers in Genetics.  14 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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5

Assessment of gene–disease associations and recommendations..:

Revencu, Nicole ; Eijkelenboom, Astrid ; Bracquemart, Claire...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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6

Measures of work-life balance and interventions of reasonab..:

BURESTI, Giuliana ; RONDINONE, Bruna M. ; VALENTI, Antonio...
Safety and Health at Work.  , 2024
Link: https://doi.org/10.1016/..
 
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7

Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-b..:

Montanaro, Federica Alice Maria ; Mandarino, Alessandra ; Alesi, Viola...
Frontiers in Psychiatry.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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8

Defining the variant-phenotype correlation in patients affe..:

Gazzin, Andrea ; Fornari, Federico ; Niceta, Marcello...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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9

Movement disorder phenotype in CTNNB1-syndrome: a complex b..:

Garone, Giacomo ; Innocenti, Alice ; Grasso, Melissa...
Parkinsonism & Related Disorders.  , 2024
Link: https://doi.org/10.1016/..
 
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10

DNA methylation profiling in Kabuki syndrome: reclassificat..:

Niceta, Marcello ; Ciolfi, Andrea ; Ferilli, Marco...
European Journal of Human Genetics.  32 (2024)  7 - p. 819-826 , 2024
Link: https://doi.org/10.1038/..
 
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11

Clinical and molecular cytogenetic studies of five new pati..:

Bensaid, Souad ; Bendahmane, Malika ; Loddo, Sara...
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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12

PTCHD1 gene mutation/deletion: the cognitive-behavioral phe..:

Federica Alice Maria Montanaro ; Alessandra Mandarino ; Viola Alesi...
https://www.frontiersin.org/articles/10.3389/fpsyt.2023.1327802/full.  , 2024
Link: https://doi.org/10.3389/..
 
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13

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
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14

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
Journal of Medical Genetics.  60 (2023)  12 - p. 1224-1234 , 2023
Link: https://doi.org/10.1136/..
 
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15

Congenital heart defects in CTNNB1 syndrome: Raising clinic..:

Sinibaldi, Lorenzo ; Garone, Giacomo ; Mandarino, Alessandra...
Clinical Genetics.  104 (2023)  5 - p. 528-541 , 2023
Link: https://doi.org/10.1111/..
 
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