E-LIB Suche - Ergebnisse für: VOZZI, Diego

1

Impaired Mitochondrial Function and Marrow Failure in Patie..:

Miano, Maurizio ; Bertola, Nadia ; Grossi, Alice...
International Journal of Molecular Sciences. 25 (2024) 4 - p. 2083 , 2024

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

2

Integrative multi-omic analysis reveals conserved cell-proj..:

Rastogi, Mohit ; Bartolucci, Martina ; Nanni, Marina...
Neuron. , 2024

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

3

Somatic Double Inactivation of NF1 Associated with NF1-Rela..:

Chelleri, Cristina ; Scala, Marcello ; De Marco, Patrizia...
Human Mutation. 2023 (2023) - p. 1-7 , 2023

Link: https://doi.org/10.1155/..

4

P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN..:

Miano, Maurizio ; Bertola, Nadia ; Grossi, Alice...
HemaSphere. 7 (2023) S3 - p. e48553f7 , 2023

Link: https://doi.org/10.1097/..

5

MYT1L variant inherited by a mosaic father in a case of sev..:

Boeri, Silvia ; Scala, Marcello ; Madia, Francesca...
Epileptic Disorders. 25 (2023) 6 - p. 874-879 , 2023

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

6

LINE-1 regulates cortical development by acting as long non..:

Mangoni, Damiano ; Simi, Alessandro ; Lau, Pierre...
Nature Communications. 14 (2023) 1 - p. , 2023

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

7

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric..:

Ognibene, Marzia ; Scala, Marcello ; Iacomino, Michele...
Cancers. 15 (2023) 6 - p. 1916 , 2023

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

8

Type I interferon activation in RAS-associated autoimmune l..:

Papa, Riccardo ; Rusmini, Marta ; Schena, Francesca...
Clinical Immunology. 231 (2021) - p. 108837 , 2021

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

9

Case Report: Whole Exome Sequencing Revealed Disease-Causin..:

Cerminara, Maria ; Spirito, Giovanni ; Pisciotta, Livia...
Frontiers in Genetics. 12 (2021) - p. , 2021

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

10

Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Pheno..:

Girardelli, Martina ; Loganes, Claudia ; Pin, Alessia...
Inflammatory Bowel Diseases. 24 (2018) 6 - p. 1204-1212 , 2018

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

11

Next-generation sequencing identified SPATC1L as a possible..:

Morgan, Anna ; Vuckovic, Dragana ; Krishnamoorthy, Navaneethakrishnan...
European Journal of Human Genetics. 27 (2018) 1 - p. 70-79 , 2018

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

12

TBL1Y: a new gene involved in syndromic hearing loss:

Di Stazio, Mariateresa ; Collesi, Chiara ; Vozzi, Diego...
European Journal of Human Genetics. 27 (2018) 3 - p. 466-474 , 2018

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

13

Targeted sequencing identifies novel variants involved in a..:

Alkowari, Moza K. ; Vozzi, Diego ; Bhagat, Shruti...
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 800-802 (2017) - p. 29-36 , 2017

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

14

Altered germinal center reaction and abnormal B cell periph..:

Lougaris, Vassilios ; Faletra, Flavio ; Lanzi, Gaetana...
Clinical Immunology. 159 (2015) 1 - p. 33-36 , 2015

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

15

Increased Rate of Deleterious Variants in Long Runs of Homo..:

Mezzavilla, Massimo ; Vozzi, Diego ; Badii, Ramin...
Human Heredity. 79 (2015) 1 - p. 14-19 , 2015

Link: https://www.jstor.org/st..