E-LIB Suche - Ergebnisse für: Squeo, Gabriella Maria

1

Matrisome and Immune Pathways Contribute to Extreme Vascula..:

Liu, Delong ; Billington Jr, Charles J. ; Raja, Neelam...
Journal of the American Heart Association. 13 (2024) 3 - p. , 2024

Link: https://doi.org/10.1161/..

2

DNA methylation profiling in Kabuki syndrome: reclassificat..:

Niceta, Marcello ; Ciolfi, Andrea ; Ferilli, Marco...
European Journal of Human Genetics. , 2024

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

3

DNA methylation episignature testing improves molecular dia..:

Kerkhof, Jennifer ; Squeo, Gabriella Maria ; McConkey, Haley...
Genetics in Medicine. 24 (2022) 1 - p. 51-60 , 2022

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

4

Genome-wide DNA methylation profiling and exome sequencing ..:

Paparella, Annalisa ; Squeo, Gabriella Maria ; Di Venere, Eleonora...
Journal of Human Genetics. 67 (2022) 9 - p. 547-551 , 2022

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

5

Identification of a DNA Methylation Episignature in the 22q..:

Rooney, Kathleen ; Levy, Michael A. ; Haghshenas, Sadegheh...
International Journal of Molecular Sciences. 22 (2021) 16 - p. 8611 , 2021

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

6

Clinical heterogeneity of Kabuki syndrome in a cohort of It..:

Di Candia, Francesca ; Fontana, Paolo ; Paglia, Pamela...
European Journal of Pediatrics. 181 (2021) 1 - p. 171-187 , 2021

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

7

DNA Methylation in the Diagnosis of Monogenic Diseases:

Cerrato, Flavia ; Sparago, Angela ; Ariani, Francesca...
Genes. 11 (2020) 4 - p. 355 , 2020

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

8

Correction: A restricted spectrum of missense KMT2D variant..:

Cuvertino, Sara ; Hartill, Verity ; Colyer, Alice...
Genetics in Medicine. 22 (2020) 5 - p. 980 , 2020

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

9

A small 7q11.23 microduplication involving GTF2I in a famil..:

Pinelli, Michele ; Terrone, Gaetano ; Troglio, Flavia...
Clinical Genetics. 97 (2020) 6 - p. 940-942 , 2020

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

10

TRIM8 interacts with KIF11 and KIFC1 and controls bipolar s..:

Venuto, Santina ; Monteonofrio, Laura ; Cozzolino, Flora...
Cancer Letters. 473 (2020) - p. 98-106 , 2020

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

11

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Inv..:

Bigoni, Stefania ; Marangi, Giuseppe ; Frangella, Silvia...
Genes. 11 (2020) 10 - p. 1177 , 2020

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

12

A restricted spectrum of missense KMT2D variants cause a mu..:

Cuvertino, Sara ; Hartill, Verity ; Colyer, Alice...
Genetics in Medicine. 22 (2020) 5 - p. 867-877 , 2020

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

13

Loss of Function of the Gene Encoding the Histone Methyltra..:

Pacelli, Consiglia ; Adipietro, Iolanda ; Malerba, Natascia...
Cells. 9 (2020) 7 - p. 1685 , 2020

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

14

Generation of the induced human pluripotent stem cell lines..:

Malerba, Natascia ; Benzoni, Patrizia ; Squeo, Gabriella Maria...
Stem Cell Research. 40 (2019) - p. 101547 , 2019

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

15

Schilbach–Rott syndrome associated with 9q22.32q22.33 dupli..:

Prontera, Paolo ; Rogaia, Daniela ; Sallicandro, Ester...
European Journal of Human Genetics. 27 (2019) 8 - p. 1260-1266 , 2019

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