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Lourenço, Charles
486  Ergebnisse:
Personensuche X
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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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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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/..
 
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7

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/..
 
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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/..
 
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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

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/..
 
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11

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/..
 
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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/..
 
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13

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/..
 
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14

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/..
 
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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/..
 
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