E-LIB Suche - Ergebnisse für: Dallapiccola, Bruno

1

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/..

2

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics. , 2024

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

3

Whole genome sequencing diagnostic yield for paediatric pat..:

Nurchis, Mario Cesare ; Altamura, Gerardo ; Riccardi, Maria Teresa...
Archives of Public Health. 81 (2023) 1 - p. , 2023

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

4

Organizational Aspects of the Implementation and Use of Who..:

Nurchis, Mario Cesare ; Raspolini, Gian Marco ; Heidar Alizadeh, Aurora...
Journal of Personalized Medicine. 13 (2023) 6 - p. 899 , 2023

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

5

Association between exposure to wind turbines and sleep dis..:

Godono, Alessandro ; Ciocan, Catalina ; Clari, Marco...
International Journal of Hygiene and Environmental Health. 254 (2023) - p. 114273 , 2023

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

6

FOXI3 pathogenic variants cause one form of craniofacial mi..:

Mao, Ke ; Borel, Christelle ; Ansar, Muhammad...
Nature Communications. 14 (2023) 1 - p. , 2023

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

7

Robert J. Gorlin: Personal Memory of a Friend and Mentor in..:

Dallapiccola, Bruno ; Mingarelli, Rita
Audiology Research. 13 (2023) 6 - p. 939-941 , 2023

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

8

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/..

9

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/..

10

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/..

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

Bayesian cost-effectiveness analysis of Whole genome sequen..:

Nurchis, Mario Cesare ; Radio, Francesca Clementina ; Salmasi, Luca...
The European Journal of Health Economics. 25 (2023) 6 - p. 999-1011 , 2023

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

13

Clinical variability in DYNC2H1-related skeletal ciliopathi..:

Piceci-Sparascio, Francesca ; Micale, Lucia ; Torres, Barbara...
European Journal of Human Genetics. 31 (2023) 4 - p. 479-484 , 2023

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

14

Incremental net benefit of whole genome sequencing for newb..:

Nurchis, Mario Cesare ; Riccardi, Maria Teresa ; Radio, Francesca Clementina...
Health Policy. 126 (2022) 4 - p. 337-345 , 2022

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

15

Reciprocal Xp11.4p11.3 microdeletion/microduplication spann..:

Catino, Giorgia ; Genovese, Silvia ; Di Tommaso, Silvia...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1836-1847 , 2022

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