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Renée Shediac
57
results:
Search for persons
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Format
Online (57)
Mediatypes
Articles (Online) (32)
OpenAccess-fulltext (25)
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. 194 (2024) 9 - p. , 2024
Link:
https://doi.org/10.1002/..
?
2
P233: Health-related quality of life in achondroplasia: Fin..:
Llerena Jr, Juan
;
Fano, Virginia
;
Rosselli, Pablo
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100261 , 2023
Link:
https://doi.org/10.1016/..
?
3
Lifetime impact of achondroplasia study in Europe (LIAISE):..:
Maghnie, Mohamad
;
Semler, Oliver
;
Guillen-Navarro, Encarna
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
4
Lifetime Impact Study for Achondroplasia (LISA): Findings f..:
Llerena Jr., Juan
;
Rosselli, Pablo
;
Aragão, Amanda
...
Genetics in Medicine Open. , 2023
Link:
https://doi.org/10.1016/..
?
5
Burden and Treatment of Achondroplasia: A Systematic Litera..:
Murton, Molly C.
;
Drane, Emma L. A.
;
Goff-Leggett, Danielle M.
...
Advances in Therapy. 40 (2023) 9 - p. 3639-3680 , 2023
Link:
https://doi.org/10.1007/..
?
6
Experiences of children and adolescents living with achondr..:
Shediac, Renée
;
Moshkovich, Olga
;
Gerould, Heather
...
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022
Link:
https://doi.org/10.1002/..
?
7
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/..
?
8
Impact of achondroplasia on Latin American patients: a syst..:
Fano, Virginia
;
Kim, Chong A.
;
Rosselli, Pablo
...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
9
Lifetime impact of achondroplasia: Current evidence and per..:
Hoover-Fong, Julie
;
Cheung, Moira S.
;
Fano, Virginia
...
Bone. 146 (2021) - p. 115872 , 2021
Link:
https://doi.org/10.1016/..
?
10
Health-related quality of life (HRQoL) in achondroplasia: f..:
Maghnie, Mohamad
;
Semler, Oliver
;
Guillen-Navarro, Encarna
...
Molecular Genetics and Metabolism. 132 (2021) - p. S127-S128 , 2021
Link:
https://doi.org/10.1016/..
?
11
Lifetime impact of achondroplasia in Europe (LIAISE): findi..:
Maghnie, Mohamad
;
Semler, Oliver
;
Guillen-Navarro, Encarna
...
Molecular Genetics and Metabolism. 132 (2021) - p. S65-S66 , 2021
Link:
https://doi.org/10.1016/..
?
12
Birth prevalence of phenylalanine hydroxylase deficiency: a..:
Foreman, Pamela K.
;
Margulis, Andrea V.
;
Alexander, Kimberly
...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
13
Birth prevalence of phenylalanine hydroxylase deficiency: a..:
Alexander, Kim
;
Margulis, Andrea
;
Foreman, Pam
...
Molecular Genetics and Metabolism. 132 (2021) - p. S112 , 2021
Link:
https://doi.org/10.1016/..
?
14
Experiences of individuals with achondroplasia and their ca..:
Shediac, Renée
;
Moshkovich, Olga
;
Lewis, Hannah
...
Molecular Genetics and Metabolism. 132 (2021) - p. S93 , 2021
Link:
https://doi.org/10.1016/..
?
15
Cerliponase alfa for the treatment of atypical phenotypes o..:
Wibbeler, Eva
;
Wang, Raymond
;
de los Reyes, Emily
...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S161-S162 , 2020
Link:
https://doi.org/10.1016/..
1-15