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Gil-da-Silva-Lopes, Vera Lucia
179  results:
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1

22q11.2 Deletion Syndrome: Influence of Parental Origin on ..:

de Wallau, Melissa Bittencourt ; Xavier, Ana Carolina ; Moreno, Carolina Araújo...
Genes.  15 (2024)  4 - p. 518 , 2024
Link: https://doi.org/10.3390/..
 
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2

Variants in Candidate Genes for Phenotype Heterogeneity in ..:

Nunes, Natalia ; Carvalho Nunes, Beatriz ; Zamariolli, Malú...
Genetics Research.  2024 (2024)  - p. 1-9 , 2024
Link: https://doi.org/10.1155/..
 
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3

Comprehensive insights into health services accessibility a..:

Silva, Isabela Mayá Wayhs ; Gil-da-Silva-Lopes, Vera Lúcia
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

Variants in KMT2A in Three Individuals with Previous Suspic..:

Silveira, Henrique Garcia ; Steiner, Carlos Eduardo ; Toccoli, Giovana...
Genes.  15 (2024)  2 - p. 211 , 2024
Link: https://doi.org/10.3390/..
 
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5

Syndromic Retinitis Pigmentosa: A 15-Patient Study:

Holanda, Ianne Pessoa ; Rim, Priscila Hae Hyun ; Guaragna, Mara Sanches...
Genes.  15 (2024)  4 - p. 516 , 2024
Link: https://doi.org/10.3390/..
 
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6

Access to genetic evaluation of 1463 individuals with orofa..:

Silva, Isabela Mayá Wayhs ; Tacla, Milena Atique ; Ribeiro, Erlane Marques...
Jornal de Pediatria.  , 2024
Link: https://doi.org/10.1016/..
 
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7

How are people with orofacial clefts attended in northwest ..:

Francisquetti, Marina Cristine Cano ; Gil-da-Silva-Lopes, Vera Lúcia ; Fett-Conte, Agnes Cristina
Genetics and Molecular Biology.  46 (2023)  4 - p. , 2023
Link: https://doi.org/10.1590/..
 
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8

SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Vari..:

Copelli, Matheus de Mello ; Pairet, Eleonore ; Atique-Tacla, Milena...
Genes.  14 (2023)  4 - p. 882 , 2023
Link: https://doi.org/10.3390/..
 
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9

Rare 15q21.1q22.31 Duplication Due to a Familial Chromosoma..:

Nascimento, Carolina Gama ; Prota, Joana Rosa Marques ; Sgardioli, Ilária Cristina...
Genes.  14 (2023)  4 - p. 885 , 2023
Link: https://doi.org/10.3390/..
 
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10

Molecular investigation in individuals with orofacial cleft..:

Atique Tacla, Milena ; de Mello Copelli, Matheus ; Pairet, Eleonore...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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11

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case..:

Francese-Santos, Ana Paula ; Meinel, Jakob A. ; Piveta, Cristiane S. C....
International Journal of Molecular Sciences.  24 (2022)  1 - p. 494 , 2022
Link: https://doi.org/10.3390/..
 
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12

Dual Molecular Diagnoses of Recessive Disorders in a Child ..:

Correia-Costa, Gabriela Roldão ; dos Santos, Ana Mondadori ; de Leeuw, Nicole...
Genes.  13 (2022)  12 - p. 2377 , 2022
Link: https://doi.org/10.3390/..
 
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13

An overview of the trajectory of Brazilian individuals with..:

Silva, Isabela Mayá Wayhs ; Gil-da-Silva-Lopes, Vera Lúcia
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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14

Demographic history differences between Hispanics and Brazi..:

da Cruz, Pedro Rodrigues Sousa ; Ananina, Galina ; Secolin, Rodrigo...
G3 Genes|Genomes|Genetics.  12 (2022)  7 - p. , 2022
Link: https://doi.org/10.1093/..
 
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15

Increased runs of homozygosity in the autosomal genome of B..:

Correia-Costa, Gabriela Roldão ; Sgardioli, Ilária Cristina ; Santos, Ana Paula dos...
Genetics and Molecular Biology.  45 (2022)  1 - p. , 2022
Link: https://doi.org/10.1590/..
 
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