E-LIB Suche - Ergebnisse für: Armaroli, Annarita

1

#2456 Real world outcomes of Fabry disease in Italian excel..:

Pisani, Antonio ; Olivotto, Iacopo ; Mignani, Renzo...
Nephrology Dialysis Transplantation. 39 (2024) Supplement_1 - p. , 2024

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

2

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/..

3

Functional Characterization of Two Novel Mutations in SCN5A..:

Balla, Cristina ; Conte, Elena ; Selvatici, Rita...
International Journal of Molecular Sciences. 22 (2021) 12 - p. 6513 , 2021

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

4

Academic achievement and needs of school‐aged children born..:

Glinianaia, Svetlana V. ; McLean, Ashleigh ; Moffat, Malcolm...
Birth Defects Research. 113 (2021) 20 - p. 1431-1462 , 2021

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

5

Circadian Genes as Exploratory Biomarkers in DMD: Results F..:

Rossi, Rachele ; Falzarano, Maria Sofia ; Osman, Hana...
Frontiers in Physiology. 12 (2021) - p. , 2021

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

6

Long-term survival of children born with congenital anomali..:

Glinianaia, Svetlana V. ; Morris, Joan K. ; Best, Kate E....
PLOS Medicine. 17 (2020) 9 - p. e1003356 , 2020

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

7

Hypospadias prevalence in the Emilia Romagna Region registr..:

Ballardini, Elisa ; Armaroli, Annarita ; Finessi, Nicola...
Journal of Pediatric Urology. 16 (2020) 4 - p. 448.e1-448.e7 , 2020

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

8

Transcriptional and epigenetic analyses of the DMD locus re..:

Gherardi, Samuele ; Bovolenta, Matteo ; Passarelli, Chiara...
Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. 1860 (2017) 11 - p. 1138-1147 , 2017

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

9

Recessive mutations inMSTO1cause mitochondrial dynamics imp..:

Nasca, Alessia ; Scotton, Chiara ; Zaharieva, Irina...
Human Mutation. 38 (2017) 8 - p. 970-977 , 2017

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

10

Huntington's disease‐like presentation in Spinocerebellar a..:

Groppo, Elisabetta ; Armaroli, Annarita ; Selvatici, Rita..
Movement Disorders. 31 (2016) 8 - p. 1248-1249 , 2016

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

11

Becker muscular dystrophy due to an intronic splicing mutat..:

Todeschini, Alice ; Gualandi, Francesca ; Trabanelli, Cecilia...
Neuromuscular Disorders. 26 (2016) 10 - p. 662-665 , 2016

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

12

Paternal germline mosaicism in collagen VI related myopathi..:

Armaroli, Annarita ; Trabanelli, Cecilia ; Scotton, Chiara...
European Journal of Paediatric Neurology. 19 (2015) 5 - p. 533-536 , 2015

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

13

Genetic counseling for women referred for advanced maternal..:

Gualandi, Francesca ; Bigoni, Stefania ; Melchiorri, Loredana...
Genetics in Medicine. 16 (2014) 10 - p. 795 , 2014

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

14

Genetic characterization in symptomatic female DMD carriers..:

Brioschi, Simona ; Gualandi, Francesca ; Scotton, Chiara...
BMC Medical Genetics. 13 (2012) 1 - p. , 2012

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

15

Early corticosteroid treatment in 4 duchenne muscular dystr..:

Merlini, Luciano ; Gennari, Monia ; Malaspina, Elisabetta...
Muscle & Nerve. 45 (2012) 6 - p. 796-802 , 2012

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