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Motta, Fabiana Louise
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1

Expanding the Phenotypic and Genotypic Spectrum of Bietti C..:

da Palma, Mariana Matioli ; Motta, Fabiana Louise ; Salles, Mariana Vallim...
Genes.  12 (2021)  5 - p. 713 , 2021
Link: https://doi.org/10.3390/..
 
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2

Retinitis Pigmentosa Due to Rp1 Biallelic Variants:

Silva, Rita Sousa ; Salles, Mariana Vallim ; Motta, Fabiana Louise.
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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3

Synonymous Variant in the CHM Gene Causes Aberrant Splicing..:

da Palma, Mariana Matioli ; Motta, Fabiana Louise ; Gomes, Caio Perez...
Investigative Opthalmology & Visual Science.  61 (2020)  2 - p. 38 , 2020
Link: https://doi.org/10.1167/..
 
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4

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case ..:

Gomes, Caio Perez ; Marins, Maryana Mara ; Motta, Fabiana Louise...
Frontiers in Genetics.  10 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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5

Clinical and molecular findings in a cohort of 152 Brazilia..:

Sallum, Juliana Maria Ferraz ; Motta, Fabiana Louise ; Arno, Gavin...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  184 (2020)  3 - p. 728-752 , 2020
Link: https://doi.org/10.1002/..
 
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6

Relative frequency of inherited retinal dystrophies in Braz..:

Motta, Fabiana Louise ; Martin, Renan Paulo ; Filippelli-Silva, Rafael..
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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7

Novel Complex ABCA4 Alleles in Brazilian Patients With Star..:

Salles, Mariana Vallim ; Motta, Fabiana Louise ; Dias da Silva, Elton...
Investigative Opthalmology & Visual Science.  58 (2017)  13 - p. 5723 , 2017
Link: https://doi.org/10.1167/..
 
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8

The correlation between CRB1 variants and the clinical seve..:

Motta, Fabiana Louise ; Salles, Mariana Vallim ; Costa, Karita Antunes...
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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9

Novel GAA mutations in patients with Pompe disease:

Turaça, Lauro Thiago ; de Faria, Douglas Oliveira Soares ; Kyosen, Sandra Obikawa...
Gene.  561 (2015)  1 - p. 124-131 , 2015
Link: https://doi.org/10.1016/..
 
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10

Fabry disease: 19 novel alterations in the alpha-galactosid..:

Turaça, Lauro ; Pessoa, Juliana Gilbert ; Motta, Fabiana Louise...
Molecular Genetics and Metabolism.  108 (2013)  2 - p. S93 , 2013
Link: https://doi.org/10.1016/..
 
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11

Kinin B1 Receptor in Adipocytes Regulates Glucose Tolerance..:

Mori, Marcelo A. ; Sales, Vicência Micheline ; Motta, Fabiana Louise...
PLoS ONE.  7 (2012)  9 - p. e44782 , 2012
Link: https://doi.org/10.1371/..
 
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12

New mutations in the GLA gene in Brazilian families with Fa..:

Turaça, Lauro Thiago ; Pessoa, Juliana Gilbert ; Motta, Fabiana Louise...
Journal of Human Genetics.  57 (2012)  6 - p. 347-351 , 2012
Link: https://doi.org/10.1038/..
 
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13

Short-Term Withdrawal of Mitogens Prior to Plating Increase..:

Schwindt, Telma Tiemi ; Motta, Fabiana Louise ; Filoso Barnabé, Gabriela...
PLoS ONE.  4 (2009)  2 - p. e4642 , 2009
Link: https://doi.org/10.1371/..
 
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14

Kinin B1 receptor gene ablation affects hypothalamic CART p..:

Torres, Hugo A.M. ; Louise Motta, Fabiana ; Sales, Vicencia Micheline...
bchm.  394 (2013)  7 - p. 901-908 , 2013
Link: https://doi.org/10.1515/..
 
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15

Expanding the Phenotypic and Genotypic Spectrum of Bietti C..:

da Palma, Mariana Matioli ; Motta, Fabiana Louise ; Salles, Mariana Vallim...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151499/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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