E-LIB Suche - Ergebnisse für: Capolino, Rossella

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

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/..

3

Deep Intronic LINE-1 Insertions in NF1: Expanding the Spect..:

Alesi, Viola ; Genovese, Silvia ; Lepri, Francesca Romana...
Biomolecules. 13 (2023) 5 - p. 725 , 2023

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

4

Analysis of gut microbiota in patients with Williams–Beuren..:

Del Chierico, Federica ; Marzano, Valeria ; Scanu, Matteo...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

5

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska M. ; Campbell, Ian M....
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 2958-2968 , 2022

Link: https://doi.org/10.1002/..

6

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/..

7

Intragenic inversions in NF1 gene as pathogenic mechanism i..:

Alesi, Viola ; Lepri, Francesca Romana ; Dentici, Maria Lisa...
European Journal of Human Genetics. 30 (2022) 11 - p. 1239-1243 , 2022

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

8

SARS-CoV-2 and Pre-Tamponade Pericardial Effusion. Could So..:

Citoni, Barbara ; Digilio, Maria Cristina ; Capolino, Rossella...
Genes. 12 (2021) 11 - p. 1782 , 2021

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

9

Congenital heart defects in molecularly confirmed KBG syndr..:

Digilio, Maria Cristina ; Calcagni, Giulio ; Gnazzo, Maria...
American Journal of Medical Genetics Part A. 188 (2021) 4 - p. 1149-1159 , 2021

Link: https://doi.org/10.1002/..

10

Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Gro..:

Alesi, Viola ; Dentici, Maria Lisa ; Genovese, Silvia...
International Journal of Molecular Sciences. 22 (2021) 2 - p. 750 , 2021

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

11

Molecular Characterization of Medulloblastoma in a Patient ..:

Ranalli, Marco ; Boni, Alessandra ; Caroleo, Anna Maria...
Diagnostics. 11 (2021) 4 - p. 647 , 2021

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

12

Manic and Depressive Symptoms in Children Diagnosed with No..:

Alfieri, Paolo ; Cumbo, Francesca ; Serra, Giulia...
Brain Sciences. 11 (2021) 2 - p. 233 , 2021

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

13

KBG syndrome: Common and uncommon clinical features based o..:

Gnazzo, Maria ; Lepri, Francesca R ; Dentici, Maria Lisa...
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 1073-1083 , 2020

Link: https://doi.org/10.1002/..

14

Defining language disorders in children and adolescents wit..:

Lazzaro, Giulia ; Caciolo, Cristina ; Menghini, Deny...
Molecular Genetics & Genomic Medicine. 8 (2020) 4 - p. , 2020

Link: https://doi.org/10.1002/..

15

TUBB3E410Ksyndrome: Case report and review of the clinical ..:

Dentici, Maria L. ; Maglione, Vittorio ; Agolini, Emanuele...
American Journal of Medical Genetics Part A. 182 (2020) 8 - p. 1977-1984 , 2020

Link: https://doi.org/10.1002/..