E-LIB Suche - Ergebnisse für: Magini, Pamela

1

Long read sequencing on its way to the routine diagnostics ..:

Olivucci, Giulia ; Iovino, Emanuela ; Innella, Giovanni...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

2

Characterization of BRCA Deficiency in Ovarian Cancer:

Barbero, Giovanna ; Zuntini, Roberta ; Magini, Pamela...
Cancers. 15 (2023) 5 - p. 1530 , 2023

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

3

Partial trisomy 21 with or without highlyrestricted Down sy..:

Pelleri, Maria Chiara ; Locatelli, Chiara ; Mattina, Teresa...
BMC Medical Genomics. 15 (2022) 1 - p. , 2022

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

4

Exome sequencing in 116 patients with inherited thrombocyto..:

Marconi, Caterina ; Pecci, Alessandro ; Palombo, Flavia...
Haematologica. 108 (2022) 7 - p. 1909-1919 , 2022

Link: https://doi.org/10.3324/..

5

HDAC9structural variants disruptingTWIST1transcriptional re..:

Hirsch, Naama ; Dahan, Idit ; D'haene, Eva...
Genome Research. 32 (2022) 7 - p. 1242-1253 , 2022

Link: https://doi.org/10.1101/..

6

Defective lipid signalling caused by mutations inPIK3C2Bund..:

Gozzelino, Luca ; Kochlamazashvili, Gaga ; Baldassari, Sara...
Brain. 145 (2022) 7 - p. 2313-2331 , 2022

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

7

Deletion of 4q13.2q21.1 chromosome and autism spectrum diso..:

Posar, Annio ; Visconti, Paola ; Magini, Pamela...
Journal of Pediatric Neurosciences. 17 (2022) 2 - p. 131-134 , 2022

Link: https://doi.org/10.4103/..

8

An increased burden of rare exonic variants in NRXN1 microd..:

Cameli, Cinzia ; Viggiano, Marta ; Rochat, Magali J....
Journal of Cellular and Molecular Medicine. 25 (2021) 5 - p. 2459-2470 , 2021

Link: https://doi.org/10.1111/..

9

Case Report: Hereditary Alpha Tryptasemia in Children: A Pe..:

Zama, Daniele ; Muratore, Edoardo ; Giannetti, Arianna...
Frontiers in Pediatrics. 9 (2021) - p. , 2021

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

10

Corrigendum to "Challenges in the clinical interpretation o..:

Magini, Pamela ; Scarano, Emanuela ; Donati, Ilaria...
Gene. 735 (2020) - p. 144393 , 2020

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

11

Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Co..:

Bertulli, Cristina ; Marzollo, Antonio ; Doria, Margherita...
International Journal of Molecular Sciences. 21 (2020) 22 - p. 8604 , 2020

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

12

Clinical spectrum and follow‐up in six individuals with Lam..:

Innella, Giovanni ; Greco, Donatella ; Carli, Diana...
American Journal of Medical Genetics Part A. 185 (2020) 2 - p. 608-613 , 2020

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

13

Autozygosity-driven genetic diagnosis in consanguineous fam..:

Palombo, Flavia ; Graziano, Claudio ; Al Wardy, Nadia...
Human Genetics. 139 (2020) 11 - p. 1429-1441 , 2020

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

14

Accurate Detection of Hot-Spot MTOR Somatic Mutations in Ar..:

Dimartino, Paola ; Mariani, Valeria ; Marconi, Caterina...
Molecular Diagnosis & Therapy. 24 (2020) 5 - p. 571-577 , 2020

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

15

P5CS expression study in a new family with ALDH18A1‐associa..:

Magini, Pamela ; Marco‐Marin, Clara ; Escamilla‐Honrubia, Juan M....
Annals of Clinical and Translational Neurology. 6 (2019) 8 - p. 1533-1540 , 2019

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