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Dória, Sofia
99  results:
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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

Syncytiotrophoblast Markers Are Downregulated in Placentas ..:

Vasconcelos, Sara ; Moustakas, Ioannis ; Branco, Miguel R....
International Journal of Molecular Sciences.  25 (2024)  10 - p. 5180 , 2024
Link: https://doi.org/10.3390/..
 
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3

The role of DNA hydroxymethylation and TET enzymes in place..:

Vasconcelos, Sara ; Caniçais, Carla ; Chuva de Sousa Lopes, Susana M...
Clinical Epigenetics.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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4

Balanced chromosomal rearrangements implicate YIPF5 and SPA..:

David, Dezső ; Fino, Joana ; Oliveira, Renata..
Gene.  887 (2023)  - p. 147737 , 2023
Link: https://doi.org/10.1016/..
 
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5

Copy number variations on chromosome 2: impact on human phe..:

Sousa, Beatriz ; Grangeia, Ana ; Pinto, Joel..
Porto Biomedical Journal.  8 (2023)  1 - p. e198 , 2023
Link: https://doi.org/10.1097/..
 
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6

Severe KIDAR syndrome caused by deletion in the AP1B1 gene:..:

Vasconcelos, Alice P. ; Nogueira, Ana ; Matos, Pedro...
European Journal of Medical Genetics.  66 (2023)  10 - p. 104827 , 2023
Link: https://doi.org/10.1016/..
 
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7

Prenatal diagnosis study using array comparative genomic hy..:

Costa, Beatriz C. ; Grangeia, Ana ; Galvão, Joana...
Annals of Diagnostic Pathology.  61 (2022)  - p. 152059 , 2022
Link: https://doi.org/10.1016/..
 
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8

Deregulation of imprinted genes expression and epigenetic r..:

Caniçais, Carla ; Vasconcelos, Sara ; Ramalho, Carla..
Journal of Assisted Reproduction and Genetics.  38 (2021)  4 - p. 791-801 , 2021
Link: https://doi.org/10.1007/..
 
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9

X-chromosome inactivation: implications in human disease:

Pereira, Guilherme ; Dória, Sofia
Journal of Genetics.  100 (2021)  2 - p. , 2021
Link: https://doi.org/10.1007/..
 
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10

12q14 microduplication: a new clinical entity reciprocal to..:

Dória, Sofia ; Alves, Daniela ; Pinho, Maria João..
BMC Medical Genomics.  13 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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11

46,XX male disorder of sexual development:

Adrião, Mariana ; Ferreira, Sofia ; Silva, Rita Santos...
Clinical Pediatric Endocrinology.  29 (2020)  1 - p. 43-45 , 2020
Link: https://doi.org/10.1297/..
 
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12

Premature ovarian insufficiency: clinical orientations for ..:

Barros, Francisco ; Carvalho, Filipa ; Barros, Alberto.
Porto Biomedical Journal.  5 (2020)  3 - p. e62 , 2020
Link: https://doi.org/10.1097/..
 
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13

Altered expression of epigenetic regulators and imprinted g..:

Vasconcelos, Sara ; Ramalho, Carla ; Marques, C. Joana.
Epigenetics.  14 (2019)  12 - p. 1234-1244 , 2019
Link: https://doi.org/10.1080/..
 
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14

Reproductive success of assisted reproductive technology in..:

Jesus, Ana Rita ; Silva-Soares, Sandra ; Silva, Joaquina...
Journal of Assisted Reproduction and Genetics.  36 (2019)  7 - p. 1471-1479 , 2019
Link: https://doi.org/10.1007/..
 
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15

Prenatal diagnosis: the clinical usefulness of array compar..:

Freitas, Marta ; Pinto, Joel ; Ramalho, Carla.
Porto Biomedical Journal.  3 (2018)  2 - p. e13 , 2018
Link: https://doi.org/10.1016/..
 
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