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Renée Shediac
57  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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