E-LIB Suche - Ergebnisse für: Mencarelli, Maria Antonietta

1

A genome-wide association study for survival from a multi-c..:

Minnai, Francesca ; Biscarini, Filippo ; Esposito, Martina...
Scientific Reports. 14 (2024) 1 - p. , 2024

2

FOXG1 variants can be associated with milder phenotypes tha..:

Mazel, Benoit ; Delanne, Julian ; Garde, Aurore...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. , 2024

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

3

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
Genetics in Medicine. 25 (2023) 4 - p. 100018 , 2023

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

4

Correction: New frontiers to cure Alport syndrome: COL4A3 a..:

Daga, Sergio ; Donati, Francesco ; Capitani, Katia...
European Journal of Human Genetics. 32 (2023) 1 - p. 131-131 , 2023

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

5

Ultra-rare RTEL1 gene variants associate with acute severit..:

Bergantini, Laura ; Baldassarri, Margherita ; d'Alessandro, Miriana...
Respiratory Research. 24 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

6

Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant..:

Doddato, Gabriella ; Fabbiani, Alessandra ; Fallerini, Chiara...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

7

YWHAE loss of function causes a rare neurodevelopmental dis..:

Denommé-Pichon, Anne-Sophie ; Collins, Stephan C. ; Bruel, Ange-Line...
Genetics in Medicine. 25 (2023) 7 - p. 100835 , 2023

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

8

An explainable model of host genetic interactions linked to..:

Onoja, Anthony ; Picchiotti, Nicola ; Fallerini, Chiara...
Communications Biology. 5 (2022) 1 - p. , 2022

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

9

CAPRIN1 haploinsufficiency causes a neurodevelopmental diso..:

Pavinato, Lisa ; Delle Vedove, Andrea ; Carli, Diana...
Brain. 146 (2022) 2 - p. 534-548 , 2022

Link: https://doi.org/10.1093/..

10

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndro..:

Khan, Amjad ; Bruno, Lucia Pia ; Alomar, Fadhel...
Frontiers in Molecular Neuroscience. 15 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

11

Identification of a Novel SHANK2 Pathogenic Variant in a Pa..:

Doddato, Gabriella ; Fabbiani, Alessandra ; Scandurra, Valeria...
Genes. 13 (2022) 4 - p. 688 , 2022

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

12

Expanding the clinical spectrum associated with the PACS1 p..:

Bruno, Lucia Pia ; Doddato, Gabriella ; Baldassarri, Margherita...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 284-288 , 2022

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

13

Exome Sequencing in BRCA1-2 Candidate Familias: The Contrib..:

Doddato, Gabriella ; Valentino, Floriana ; Giliberti, Annarita...
Frontiers in Oncology. 11 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

14

Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias..:

Doddato, Gabriella ; Valentino, Floriana ; Giliberti, Annarita...
Frontiers in Oncology. 11 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

15

Exome Sequencing in 200 Intellectual Disability/Autistic Pa..:

Valentino, Floriana ; Bruno, Lucia Pia ; Doddato, Gabriella...
Brain Sciences. 11 (2021) 7 - p. 936 , 2021

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