E-LIB Suche - Ergebnisse für: Giangiobbe, Sara

1

Whole-Exome Sequencing Identifies a Novel Germline Variant ..:

Miao, Beiping ; Skopelitou, Diamanto ; Srivastava, Aayushi...
International Journal of Molecular Sciences. 23 (2022) 3 - p. 1295 , 2022

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

2

Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1..:

Srivastava, Aayushi ; Giangiobbe, Sara ; Skopelitou, Diamanto...
Frontiers in Endocrinology. 12 (2021) - p. , 2021

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

3

Characterization of rare germline variants in familial mult..:

Catalano, Calogerina ; Paramasivam, Nagarajan ; Blocka, Joanna...
Blood Cancer Journal. 11 (2021) 2 - p. , 2021

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

4

Immunosuppressive therapy in childhood‐onset arrhythmogenic..:

Peretto, Giovanni ; Barzaghi, Federica ; Cicalese, Maria Pia...
Pacing and Clinical Electrophysiology. 44 (2021) 3 - p. 552-556 , 2021

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

5

Posterior Lissencephaly Associated with Subcortical Band He..:

Contrò, Gianluca ; Micalizzi, Alessia ; Giangiobbe, Sara...
Genes. 12 (2021) 8 - p. 1208 , 2021

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

6

The fate of orally administered sialic acid: First insights..:

Tran, Christel ; Turolla, Licia ; Ballhausen, Diana...
Molecular Genetics and Metabolism Reports. 28 (2021) - p. 100777 , 2021

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

7

Identification of Familial Hodgkin Lymphoma Predisposing Ge..:

Srivastava, Aayushi ; Giangiobbe, Sara ; Kumar, Abhishek...
Frontiers in Bioengineering and Biotechnology. 8 (2020) - p. , 2020

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

8

Expanding the phenotype of Wiedemann‐Steiner syndrome: Cran..:

Giangiobbe, Sara ; Caraffi, Stefano Giuseppe ; Ivanovski, Ivan...
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 2877-2886 , 2020

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

9

Whole Genome Sequencing of Familial Non-Medullary Thyroid C..:

Srivastava, Aayushi ; Kumar, Abhishek ; Giangiobbe, Sara...
Biomolecules. 9 (2019) 10 - p. 605 , 2019

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

10

Severe Peripheral Joint Laxity is a Distinctive Clinical Fe..:

Caraffi, Stefano Giuseppe ; Maini, Ilenia ; Ivanovski, Ivan...
Genes. 10 (2019) 10 - p. 799 , 2019

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

11

Familial Cancer Variant Prioritization Pipeline version 2 (..:

Kumar, Abhishek ; Bandapalli, Obul Reddy ; Paramasivam, Nagarajan...
Scientific Reports. 8 (2018) 1 - p. , 2018

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

12

Whole genome sequencing reveals DICER1 as a candidate predi..:

Bandapalli, Obul Reddy ; Paramasivam, Nagarajan ; Giangiobbe, Sara...
International Journal of Cancer. 143 (2018) 8 - p. 2076-2078 , 2018

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

13

STAR syndrome plus: The first description of a female patie..:

Bedeschi, Maria F. ; Giangiobbe, Sara ; Paganini, Leda...
American Journal of Medical Genetics Part A. 173 (2017) 12 - p. 3226-3230 , 2017

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

14

Deregulation of MiR-34b/Sox2 Predicts Prostate Cancer Progr..:

Forno, Irene ; Ferrero, Stefano ; Russo, Maria Veronica...
PLOS ONE. 10 (2015) 6 - p. e0130060 , 2015

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

15

A novel heterozygous SOX2 mutation causing congenital bilat..:

Macchiaroli, Annamaria ; Kelberman, Daniel ; Auriemma, Renata Simona...
Gene. 534 (2014) 2 - p. 282-285 , 2014

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