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Quental, Rita
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1

Impact of copy number variants in epilepsy plus neurodevelo..:

João, Sofia ; Quental, Rita ; Pinto, Joel...
Seizure: European Journal of Epilepsy.  117 (2024)  - p. 6-12 , 2024
Link: https://doi.org/10.1016/..
 
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2

#5302 REVISITING THE PATHOGENIC ROLE OF THE SLC8A1 GENE IN ..:

Gonçalves, Francisco ; Gonçalves, Pedro Lisboa ; Quental, Rita...
Nephrology Dialysis Transplantation.  38 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1093/..
 
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3

Familial juvenile hyperuricemic nephropathy: Revisiting the..:

Gonçalves, Francisco ; Lisboa-Gonçalves, Pedro ; Quental, Rita...
Nefrología.  , 2023
Link: https://doi.org/10.1016/..
 
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4

Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Por..:

Curado Vilares Morgado, Rodrigo Manuel Robalo ; Ferreira, Ana Margarida ; Santos-Silva, Renato...
Case Reports in Ophthalmology.  , 2023
Link: https://doi.org/10.1159/..
 
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5

Renal manifestations in adults with mitochondrial disease f..:

Ferreira, Filipa ; Gonçalves Bacelar, Clara ; Lisboa-Gonçalves, Pedro...
Nefrología (English Edition).  43 (2023)  - p. 1-7 , 2023
Link: https://doi.org/10.1016/..
 
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6

Detection of a de novo heterozygous ANK2 variant in a child..:

Morais, Catarina Granjo ; Quental, Rita ; Lourenço, Lara...
Egyptian Journal of Medical Human Genetics.  24 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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7

Renal manifestations in adults with mitochondrial disease f..:

Ferreira, Filipa ; Gonçalves Bacelar, Clara ; Lisboa-Gonçalves, Pedro...
Nefrología.  43 (2023)  - p. 1-7 , 2023
Link: https://doi.org/10.1016/..
 
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8

Congenital heart defects associated with pathogenic variant..:

Quental, Rita ; Gonçalves, Daniel ; Rodrigues, Esmeralda...
American Journal of Medical Genetics Part A.  188 (2022)  4 - p. 1311-1316 , 2022
Link: https://doi.org/10.1002/..
 
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9

Two cases of ADA2 deficiency presenting as childhood polyar..:

Ganhão, Sara ; Loureiro, Graça Barros ; Oliveira, Diana Rita...
Clinical Rheumatology.  39 (2020)  12 - p. 3853-3860 , 2020
Link: https://doi.org/10.1007/..
 
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10

Successful COG8 and PDF overlap is mediated by alterations ..:

Pereira-Castro, Isabel ; Quental, Rita ; da Costa, Luís T...
Human Genetics.  131 (2011)  2 - p. 265-274 , 2011
Link: https://doi.org/10.1007/..
 
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11

Evolutionary History and Functional Diversification of Phos..:

Quental, Rita ; Moleirinho, Ana ; Azevedo, Luísa.
Journal of Molecular Evolution.  71 (2010)  2 - p. 119-127 , 2010
Link: https://doi.org/10.1007/..
 
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12

Comparative analyses of the Conserved Oligomeric Golgi (COG..:

Quental, Rita ; Azevedo, Luísa ; Matthiesen, Rune.
BMC Evolutionary Biology.  10 (2010)  1 - p. 212 , 2010
Link: https://doi.org/10.1186/..
 
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13

PB1816: RUNX1 GERMLINE VARIANT AND CLONAL EVOLUTION TO ACUT..:

Amorim, Maria Luís ; Araújo, Joana ; Mariana, Lopes...
HemaSphere.  7 (2023)  S3 - p. e1700581 , 2023
Link: https://doi.org/10.1097/..
 
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14

X-linked myotubular myopathy: a clinical report and a revie..:

Barreto-Mota, Ricardo ; Figueirinha, Joana ; Quental, Rita...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10478112/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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15

PB1816: RUNX1 GERMLINE VARIANT AND CLONAL EVOLUTION TO ACUT..:

Maria Luís Amorim ; Joana Araújo ; Lopes Mariana...
http://journals.lww.com/10.1097/01.HS9.0000974112.17005.81.  , 2023
Link: https://doi.org/10.1097/..
 
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