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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/..

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

What lies beneath: Next generation sequencing unraveling Ni..:

Lourenco, Charles M. ; Queiroz, Amadeu ; Sansao, Lilian...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107941 , 2024

Link: https://doi.org/10.1016/..

4

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/..

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

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/..

7

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/..

8

P024: Next generation sequencing in the diagnosis of acute ..:

Charles Lourenco ; Amadeu Queiroz ; Regina Albuquerque..
http://www.sciencedirect.com/science/article/pii/S2949774423000341. , 2023

Link: https://doi.org/10.1016/..

9

P025: Sapropterin therapy in DHPR deficiency: Overcoming ba..:

Charles Lourenco ; Regina Albuquerque ; Lilian Sansao...
http://www.sciencedirect.com/science/article/pii/S2949774423000353. , 2023

Link: https://doi.org/10.1016/..

10

P235: Cerebellar ataxia with hypogonadism: Clinical clues t..:

Charles Lourenco ; Amadeu Queiroz ; Regina Albuquerque..
http://www.sciencedirect.com/science/article/pii/S2949774423002637. , 2023

Link: https://doi.org/10.1016/..

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