E-LIB Suche - Ergebnisse für: Maria Lisa Dentici

1

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/..

2

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

Garone, Giacomo ; Innocenti, Alice ; Grasso, Melissa...
Parkinsonism & Related Disorders. 126 (2024) - p. 107057 , 2024

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

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

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/..

11

Williams–Beuren syndrome shapes the gut microbiota metaprot..:

Marzano, Valeria ; Levi Mortera, Stefano ; Vernocchi, Pamela...
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

12

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehe..:

Onesimo, Roberta ; Sforza, Elisabetta ; Trevisan, Valentina...
Genes. 14 (2023) 10 - p. 1843 , 2023

Link: https://doi.org/10.3390/..

13

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/..

14

Refining of the electroclinical phenotype in familial and s..:

Trivisano, Marina ; Dominicis, Angela De ; Stregapede, Fabrizia...
Epilepsy & Behavior. 147 (2023) - p. 109436 , 2023

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

15

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/..