E-LIB Suche - Ergebnisse für: Daniela Orteschi

1

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A..:

Trevisan, Valentina ; Meroni, Anna ; Leoni, Chiara...
Genes. 15 (2024) 3 - p. 346 , 2024

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

2

Acute erythroid leukemia with TP53 mutation and BCR/ABL1: c..:

Marra, John Donald ; Frioni, Filippo ; Minnella, Gessica...
Annals of Hematology. 103 (2023) 3 - p. 1013-1014 , 2023

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

3

Triple Genetic Diagnosis in a Patient with Late-Onset Leuko..:

Pasquetti, Domizia ; Gazzellone, Annalisa ; Rossi, Salvatore...
International Journal of Molecular Sciences. 25 (2023) 1 - p. 495 , 2023

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

4

Linear Diagnostic Procedure Elicited by Clinical Genetics a..:

Pasquetti, Domizia ; Marangi, Giuseppe ; Orteschi, Daniela...
Genes. 14 (2023) 2 - p. 245 , 2023

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

5

Investigating the "Fetal Side" in Recurrent Pregnancy Loss:..:

D'Ippolito, Silvia ; Longo, Giuliana ; Orteschi, Daniela...
Journal of Clinical Medicine. 12 (2023) 12 - p. 3898 , 2023

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

6

Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrom..:

Pasquetti, Domizia ; L'Erario, Federica Francesca ; Marangi, Giuseppe...
Clinical Genetics. 105 (2023) 1 - p. 81-86 , 2023

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

7

CHAMP1-related disorders: pathomechanisms triggered by diff..:

Amenta, Simona ; Marangi, Giuseppe ; Orteschi, Daniela...
European Journal of Human Genetics. 31 (2023) 6 - p. 648-653 , 2023

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

8

A common pattern of somatic mutations in t‐MDS/AML of patie..:

Chiusolo, Patrizia ; Marchetti, Claudia ; Rossi, Monica...
American Journal of Hematology. 97 (2022) 11 - p. , 2022

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

9

Generation of an induced pluripotent stem cell line (UCSCi0..:

Martello, Francesco ; Lattante, Serena ; Doronzio, Paolo Niccolò...
Stem Cell Research. 62 (2022) - p. 102825 , 2022

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

10

Generation of an induced pluripotent stem cell line (UCSCi0..:

Martello, Francesco ; Lattante, Serena ; Doronzio, Paolo Niccolò...
Stem Cell Research. 55 (2021) - p. 102461 , 2021

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

11

Co-Occurrence of Fragile X Syndrome with a Second Genetic C..:

Tabolacci, Elisabetta ; Pomponi, Maria Grazia ; Remondini, Laura...
Genes. 12 (2021) 12 - p. 1909 , 2021

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

12

Pembrolizumab as first-line treatment for metastatic uveal ..:

Rossi, Ernesto ; Pagliara, Monica Maria ; Orteschi, Daniela...
Cancer Immunology, Immunotherapy. 68 (2019) 7 - p. 1179-1185 , 2019

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

13

The chromosome analysis of the miscarriage tissue. Miscarri..:

D'ippolito, Silvia ; Di Simone, Nicoletta ; Orteschi, Daniela...
PLOS ONE. 12 (2017) 6 - p. e0178113 , 2017

Link: https://doi.org/10.1371/..

14

A novel truncating variant within exon 7 of KAT6B associate..:

Marangi, Giuseppe ; Di Giacomo, Marilena C. ; Lattante, Serena...
American Journal of Medical Genetics Part A. 176 (2017) 2 - p. 455-459 , 2017

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

15

Impairment of different protein domains causes variable cli..:

Bedeschi, Maria Francesca ; Marangi, Giuseppe ; Calvello, Maria Rosaria...
European Journal of Medical Genetics. 60 (2017) 11 - p. 565-571 , 2017

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