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Prontera, Paolo
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1

Impact of genetic and non-genetic factors on phenotypic div..:

Hammann, Nicole ; Lenz, Dominic ; Baric, Ivo...
Molecular Genetics and Metabolism.  141 (2024)  3 - p. 108118 , 2024
Link: https://doi.org/10.1016/..
 
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2

Contiguous Gene Syndromes and Hearing Loss: A Clinical Repo..:

Bonati, Maria Teresa ; Feresin, Agnese ; Prontera, Paolo...
Genes.  15 (2024)  6 - p. 677 , 2024
Link: https://doi.org/10.3390/..
 
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3

NFIA haploinsufficiency: case series and literature review:

Dini, Gianluca ; Verrotti, Alberto ; Gorello, Paolo...
Frontiers in Pediatrics.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

IRF2BPL: A new genotype for progressive myoclonus epilepsie:

Costa, Cinzia ; Oliver, Karen L. ; Calvello, Carmen...
Epilepsia.  64 (2023)  8 - p. , 2023
Link: https://doi.org/10.1111/..
 
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5

Epm2aR240X knock-in mice present earlier cognitive decline ..:

Burgos, Daniel F. ; Sciaccaluga, Miriam ; Worby, Carolyn A....
Neurobiology of Disease.  181 (2023)  - p. 106119 , 2023
Link: https://doi.org/10.1016/..
 
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6

Assortative mating and parental genetic relatedness contrib..:

Smolen, Corrine ; Jensen, Matthew ; Dyer, Lisa...
The American Journal of Human Genetics.  110 (2023)  12 - p. 2015-2028 , 2023
Link: https://doi.org/10.1016/..
 
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7

Clinical and electroencephalographic features of epilepsy i..:

Dell'Isola, Giovanni Battista ; Mencaroni, Elisabetta ; Prontera, Paolo...
Seizure: European Journal of Epilepsy.  102 (2022)  - p. 32-35 , 2022
Link: https://doi.org/10.1016/..
 
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8

Genome-Wide DNA Methylation Profiling Solves Uncertainty in..:

Ferilli, Marco ; Ciolfi, Andrea ; Pedace, Lucia...
Genes.  13 (2022)  11 - p. 2163 , 2022
Link: https://doi.org/10.3390/..
 
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9

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz..:

Migliore, Chiara ; Vendramin, Anna ; McKee, Shane...
Genes.  13 (2022)  2 - p. 252 , 2022
Link: https://doi.org/10.3390/..
 
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10

ANKLE2‐related microcephaly: A variable microcephaly syndro..:

Thomas, Ajay X. ; Link, Nichole ; Robak, Laurie A....
Annals of Clinical and Translational Neurology.  9 (2022)  8 - p. 1276-1288 , 2022
Link: https://doi.org/10.1002/..
 
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11

DNA methylation episignature testing improves molecular dia..:

Kerkhof, Jennifer ; Squeo, Gabriella Maria ; McConkey, Haley...
Genetics in Medicine.  24 (2022)  1 - p. 51-60 , 2022
Link: https://doi.org/10.1016/..
 
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12

Expanding the genetic and clinical characteristics of Proto..:

Dell'Isola, Giovanni Battista ; Mencaroni, Elisabetta ; Fattorusso, Antonella...
BMC Medical Genomics.  15 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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13

Novel genetic variants of KHDC3L and other members of the s..:

Pignata, Laura ; Cecere, Francesco ; Verma, Ankit...
Clinical Epigenetics.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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14

Novel mutations in the WFS1 gene are associated with Wolfra..:

Panfili, Eleonora ; Mondanelli, Giada ; Orabona, Ciriana...
Human Molecular Genetics.  30 (2021)  3-4 - p. 265-276 , 2021
Link: https://doi.org/10.1093/..
 
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15

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Pati..:

Guida, Valentina ; Calzari, Luciano ; Fadda, Maria Teresa...
International Journal of Molecular Sciences.  22 (2021)  3 - p. 1190 , 2021
Link: https://doi.org/10.3390/..
 
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