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Lourenco, Charles
486
results:
Search for persons
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Format
Online (486)
Mediatypes
Articles (Online) (194)
Bookchapter (Online) (3)
OpenAccess-fulltext (289)
Languages
english (395)
portuguese (37)
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Sorted by: Year
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1
P015: Connecting the dots (and neurons): Unraveling the gen..:
Lourenco, Charles
;
Queiroz, Amadeu
;
Sansao, Lilian
...
Genetics in Medicine Open. 2 (2024) - p. 100892 , 2024
Link:
https://doi.org/10.1016/..
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2
"Cassandra Curse" or a modern "Sisyphus Burden"? Recurrent ..:
Lourenco, Charles
;
Albuquerque, Regina
;
Fonseca, Jacqueline
...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108306 , 2024
Link:
https://doi.org/10.1016/..
?
3
P235: Cerebellar ataxia with hypogonadism: Clinical clues t..:
Lourenco, Charles
;
Queiroz, Amadeu
;
Albuquerque, Regina
..
Genetics in Medicine Open. 1 (2023) 1 - p. 100263 , 2023
Link:
https://doi.org/10.1016/..
?
4
Fractionated plasma N‐glycan profiling of novel cohort of A..:
Alharbi, Hana
;
Daniel, Earnest James Paul
;
Thies, Jenny
...
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 300-312 , 2023
Link:
https://doi.org/10.1002/..
?
5
P024: Next generation sequencing in the diagnosis of acute ..:
Lourenco, Charles
;
Queiroz, Amadeu
;
Albuquerque, Regina
..
Genetics in Medicine Open. 1 (2023) 1 - p. 100034 , 2023
Link:
https://doi.org/10.1016/..
?
6
P025: Sapropterin therapy in DHPR deficiency: Overcoming ba..:
Lourenco, Charles
;
Albuquerque, Regina
;
Sansao, Lilian
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100035 , 2023
Link:
https://doi.org/10.1016/..
?
7
UNRAVELING PHENOTYPES IN A COHORT OF BRAZILIAN PATIENTS WIT..:
Lourenco, Charles
;
Albuquerque, Regina
;
Queiroz, Amadeu
...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107449 , 2023
Link:
https://doi.org/10.1016/..
?
8
P236: Harnessing the power of genomics: Development of a we..:
Lourenco, Charles
;
Candido, Raissa
;
Bastos, Clarisse
..
Genetics in Medicine Open. 1 (2023) 1 - p. 100264 , 2023
Link:
https://doi.org/10.1016/..
?
9
Doença de Krabbe: relato de casos sobre o espectro fenotípi..:
Carneiro, Zumira
;
Lourenço, Charles
;
Barbosa, Gabriela Cruz
.
Arquivos de Ciências da Saúde. 28 (2021) 1 - p. 53 , 2021
Link:
https://doi.org/10.17696..
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10
Characterization of The Brazilian ARSACS Phenotype: Clinica..:
Filho, Flavio Rezende
;
Pedroso, Jose Luiz
;
Sallum, Juliana Maria
...
Neurology. 90 (2018) 15_supplement - p. , 2018
Link:
https://doi.org/10.1212/..
?
11
Recommendations for evaluation and management of pain in pa..:
Politei, Juan
;
Gonzalez, Gisel Gordillo
;
Guelbert, Norberto
...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S120 , 2018
Link:
https://doi.org/10.1016/..
?
12
DNM1encephalopathy: A new disease of vesicle fission:
von Spiczak, Sarah
;
Helbig, Katherine L.
;
Shinde, Deepali N.
...
Neurology. 89 (2017) 4 - p. 385-394 , 2017
Link:
https://doi.org/10.1212/..
?
13
Can Glucose Disorders Affect the Severity of CMT1A Neuropat..:
Algemiro, Juliana
;
Leal, Rita De Cassia
;
Lourenco, Charles
...
Neurology. 82 (2014) 10_supplement - p. , 2014
Link:
https://doi.org/10.1212/..
?
14
Spinocerebellar Ataxias with Hypogonadism: Unraveling a Nov..:
Lourenco, Charles
;
Sobreira, Claudia
;
Giugliani, Roberto
..
Neurology. 82 (2014) 10_supplement - p. , 2014
Link:
https://doi.org/10.1212/..
?
15
Spinocerebellar Ataxias with Hypogonadism: Unraveling a Nov..:
Lourenco, Charles
;
Sobreira, Claudia
;
Giugliani, Roberto
..
Neurology. 82 (2014) 10_supplement - p. , 2014
Link:
https://doi.org/10.1212/..
1-15