E-LIB Suche - Ergebnisse für: Prontera Paolo

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

Small-expanded allele spinocerebellar ataxia 17: imaging an..:

Paolini Paoletti, Federico ; Prontera, Paolo ; Nigro, Pasquale...
Neurological Sciences. 42 (2021) 10 - p. 4309-4315 , 2021

Link: https://doi.org/10.1007/..

15

The relevance of deep genomic analyses in families with var..:

Pizzo, Lucilla ; Jensen, Matthew ; Tyryshkina, Anastasia...
Molecular Genetics and Metabolism. 132 (2021) - p. S69 , 2021

Link: https://doi.org/10.1016/..