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Izzo, Emanuela
108
results:
Search for persons
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Format
Online (108)
Mediatypes
Articles (Online) (48)
OpenAccess-fulltext (60)
Languages
english (93)
italian (3)
Sorted by: Relevance
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?
1
Clinical utility of comprehensive gene panel testing for co..:
MacCarrick, Gretchen
;
Aradhya, Swaroop
;
Bailey, Mitch
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/..
?
2
Value of genetic testing for pediatric epilepsy: Driving ea..:
Leal‐Pardinas, Fernanda
;
Truty, Rebecca
;
McKnight, Dianalee A.
...
Epilepsia. 63 (2022) 7 - p. , 2022
Link:
https://doi.org/10.1111/..
?
3
eP409: Clinical utility of a sponsored, no-charge skeletal ..:
MacCarrick, Gretchen
;
Mackenzie, William
;
Raggio, Cathleen
...
Genetics in Medicine. 24 (2022) 3 - p. S257 , 2022
Link:
https://doi.org/10.1016/..
?
4
Clinical utility of a sponsored, no-cost skeletal dysplasia..:
Seratti, Guillermo
;
Pansare, Vikram
;
Pang, Tiffany Yar
...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S98 , 2021
Link:
https://doi.org/10.1016/..
?
5
Clinical utility of a sponsored, no-cost skeletal dysplasia..:
Seratti, Guillermo
;
Pang, Tiffany
;
Pansare, Vikram
...
Molecular Genetics and Metabolism. 132 (2021) - p. S201 , 2021
Link:
https://doi.org/10.1016/..
?
6
Next-generation sequencing in childhood-onset epilepsies: D..:
Gall, Kimberly
;
Izzo, Emanuela
;
Seppälä, Eija H.
...
PLOS ONE. 16 (2021) 9 - p. e0255933 , 2021
Link:
https://doi.org/10.1371/..
?
7
Molecular basis of mucopolysaccharidosis type IVA (Morquio ..:
Singh, Akashdeep
;
Zanetti, Alessandra
;
Morrone, Amelia
...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S101 , 2021
Link:
https://doi.org/10.1016/..
?
8
Clinical utility of a sponsored gene panel testing program ..:
Pang, Tiffany
;
Leal-Pardinas, Fernanda
;
Truty, Rebecca
...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S82 , 2021
Link:
https://doi.org/10.1016/..
?
9
Molecular basis of mucopolysaccharidosis IVA (Morquio A syn..:
Zanetti, Alessandra
;
D'Avanzo, Francesca
;
AlSayed, Moeenaldeen
...
Human Mutation. 42 (2021) 11 - p. 1384-1398 , 2021
Link:
https://doi.org/10.1002/..
?
10
Diagnostic yield and clinical utility of genetic testing in..:
Singh, Akashdeep
;
Gall, Kimberly
;
Izzo, Emanuela
...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S100-S101 , 2021
Link:
https://doi.org/10.1016/..
?
11
Clinical utility of a sponsored gene panel testing program ..:
Pang, Tiffany
;
Truty, Rebecca
;
McKnight, Dianalee A.
...
Molecular Genetics and Metabolism. 132 (2021) - p. S204 , 2021
Link:
https://doi.org/10.1016/..
?
12
Utility of gene panel testing in children with seizure onse..:
Izzo, Emanuela
;
Gall, Kimberly
;
Alakurtti, Kirsi
...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S80 , 2020
Link:
https://doi.org/10.1016/..
?
13
Mucopolysaccharidosis type VI (MPS VI) and molecular analys..:
Bailey, Mitch
;
Karageorgos, Litsa
;
Tomanin, Rosella
...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S21-S22 , 2018
Link:
https://doi.org/10.1016/..
?
14
Use of epilepsy gene panels for early diagnosis of epilepsy..:
Izzo, Emanuela
;
Barroso, Eva
;
Bailey, Mitch
...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S69 , 2018
Link:
https://doi.org/10.1016/..
?
15
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 di..:
Fietz, Michael
;
AlSayed, Moeenaldeen
;
Burke, Derek
...
Molecular Genetics and Metabolism. 119 (2016) 1-2 - p. 160-167 , 2016
Link:
https://doi.org/10.1016/..
1-15