E-LIB Suche - Ergebnisse für: Ferlini, Alessandra

1

Patient preferences in genetic newborn screening for rare d..:

MARTIN, Sylvia ; Angolini, Emanuele ; Audi, Jennifer...
BMJ Open. 14 (2024) 4 - p. e081835 , 2024

Link: https://doi.org/10.1136/..

2

Cardiac conduction disorders in young adults: Clinical char..:

Balla, Cristina ; Margutti, Alice ; De Carolis, Beatrice...
Heart Rhythm. , 2024

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

3

DMD deletions underlining mild dystrophinopathies: literatu..:

Fortunato, Fernanda ; Tonelli, Laura ; Farnè, Marianna..
Frontiers in Neurology. 14 (2024) - p. , 2024

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

4

263rd ENMC International Workshop: Focus on female carriers..:

Sarkozy, Anna ; Quinlivan, Rosaline ; Bourke, John P....
Neuromuscular Disorders. 33 (2023) 3 - p. 274-284 , 2023

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

5

mRNA in situ hybridization exhibits unbalanced nuclear/cyto..:

Falzarano, Maria Sofia ; Mietto, Martina ; Fortunato, Fernanda...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

6

TeleNEwCARe: An Italian case-control telegenetics study in ..:

Farnè, Marianna ; Fortunato, Fernanda ; Neri, Marcella...
European Journal of Medical Genetics. 66 (2023) 6 - p. 104749 , 2023

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

7

Biomarkers in Duchenne Muscular Dystrophy: Current Status a..:

Fortunato, Fernanda ; Ferlini, Alessandra
Journal of Neuromuscular Diseases. 10 (2023) 6 - p. 987-1002 , 2023

Link: https://doi.org/10.3233/..

8

A Proof of Principle Proteomic Study Detects Dystrophin in ..:

Rossi, Rachele ; Johansson, Camilla ; Heywood, Wendy...
International Journal of Molecular Sciences. 24 (2023) 6 - p. 5215 , 2023

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

9

Rare diseases' genetic newborn screening as the gateway to ..:

Ferlini, Alessandra ; Gross, Edith Sky ; Garnier, Nicolas...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

10

Calculating and comparing codon usage values in rare diseas..:

Rossi, Rachele ; Fang, Mingyan ; Zhu, Lin...
PLOS ONE. 17 (2022) 3 - p. e0265469 , 2022

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

11

Clinical presentations leading to arrhythmogenic left ventr..:

Graziosi, Maddalena ; Ditaranto, Raffaello ; Rapezzi, Claudio...
Open Heart. 9 (2022) 1 - p. e001914 , 2022

Link: https://doi.org/10.1136/..

12

RNA-seq in DMD urinary stem cells recognized muscle-related..:

Falzarano, Maria S. ; Grilli, Andrea ; Zia, Silvia...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100054 , 2022

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

13

Recommendations for whole genome sequencing in diagnostics ..:

Souche, Erika ; Beltran, Sergi ; Brosens, Erwin...
European Journal of Human Genetics. 30 (2022) 9 - p. 1017-1021 , 2022

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

14

Gain and loss of TASK3 channel function and its regulation ..:

Cousin, Margot A. ; Veale, Emma L. ; Dsouza, Nikita R....
Genome Medicine. 14 (2022) 1 - p. , 2022

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

15

Newborn Screening by Genomic Sequencing: Opportunities and ..:

Bick, David ; Ahmed, Arzoo ; Deen, Dasha...
International Journal of Neonatal Screening. 8 (2022) 3 - p. 40 , 2022

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