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Brusius‐Facchin, Ana Carolina
101  Ergebnisse:
Personensuche X
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1

Copy number variations in SPAST and ATL1 are rare among Bra..:

Fussiger, Helena ; Pereira, Bruna Letícia da Silva ; Padilha, Janice Pacheco Dias...
Clinical Genetics.  103 (2023)  5 - p. 580-584 , 2023
Link: https://doi.org/10.1111/..
 
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2

Measurement of sulfatides in the amniotic fluid supernatant..:

Kubaski, Francyne ; Herbst, Zackary M. ; Burin, Maira Graeff...
JIMD Reports.  63 (2022)  2 - p. 162-167 , 2022
Link: https://doi.org/10.1002/..
 
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3

Molecular basis of mucopolysaccharidosis IVA (Morquio A syn..:

Zanetti, Alessandra ; D'Avanzo, Francesca ; AlSayed, Moeenaldeen...
Human Mutation.  42 (2021)  11 - p. 1384-1398 , 2021
Link: https://doi.org/10.1002/..
 
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4

Genotype–phenotype studies in a large cohort of Brazilian p..:

Josahkian, Juliana Alves ; Brusius‐Facchin, Ana Carolina ; Netto, Alice Brinckmann Oliveira...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  187 (2021)  3 - p. 349-356 , 2021
Link: https://doi.org/10.1002/..
 
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5

Demographic, clinical, and ancestry characterization of a l..:

Santos‐Lopes, Simone Silva ; Oliveira, Jessica Maria Florêncio ; Queiroga Nascimento, Denise...
American Journal of Medical Genetics Part A.  185 (2021)  10 - p. 2929-2940 , 2021
Link: https://doi.org/10.1002/..
 
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6

Diagnostic yield of targeted sequential and massive panel a..:

Padilha, Janice Pacheco Dias ; Brasil, Carolina Serpa ; Hoefel, Alice Maria Luderitz...
Clinical Genetics.  98 (2020)  2 - p. 185-190 , 2020
Link: https://doi.org/10.1111/..
 
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7

Clinical findings in Brazilian patients with adult GM1 gang..:

Giugliani, Luciana ; Steiner, Carlos Eduardo ; Kim, Chong Ae...
JIMD Reports.  49 (2019)  1 - p. 96-106 , 2019
Link: https://doi.org/10.1002/..
 
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8

Severe phenotype in MPS II patients associated with a large..:

Brusius‐Facchin, Ana Carolina ; De Souza, Carolina Fischinger Moura ; Schwartz, Ida Vanessa D....
American Journal of Medical Genetics Part A.  158A (2012)  5 - p. 1055-1059 , 2012
Link: https://doi.org/10.1002/..
 
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9

Important aspects in the molecular diagnosis of mucopolysac..:

Brusius‐Facchin, Ana Carolina ; Kubaski, Francyne ; Giugliani, Roberto.
Journal of Inherited Metabolic Disease.  36 (2012)  5 - p. 905-906 , 2012
Link: https://doi.org/10.1007/..
 
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10

Gene-environment interactions and preterm birth predictors:..:

Elias, Dario E. ; Santos, Maria R. ; Campaña, Hebe...
Genetics and Molecular Biology.  46 (2023)  4 - p. , 2023
Link: https://doi.org/10.1590/..
 
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11

Prenatal diagnosis of Pompe disease:

Netto, Alice Brinckmann Oliveira ; Brusius-Facchin, Ana Carolina ; Leistner-Segal, Sandra...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107035 , 2023
Link: https://doi.org/10.1016/..
 
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12

Utilization of next generation sequencing technology for de..:

Netto, Alice Brinckmann Oliveira ; Brusius-Facchin, Ana Carolina ; Leistner-Segal, Sandra..
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107036 , 2023
Link: https://doi.org/10.1016/..
 
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13

Pilot study of newborn screening for six lysosomal diseases..:

Kubaski, Francyne ; Sousa, Ines ; Amorim, Tatiana...
Molecular Genetics and Metabolism.  140 (2023)  1-2 - p. 107654 , 2023
Link: https://doi.org/10.1016/..
 
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14

Neonatal screening for spinal muscular atrophy: A pilot stu..:

Oliveira Netto, Alice Brinckmann ; Brusius-Facchin, Ana Carolina ; Lemos, Júlia F....
Genetics and Molecular Biology.  46 (2023)  3 suppl 1 - p. , 2023
Link: https://doi.org/10.1590/..
 
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15

Genes, exposures, and interactions on preterm birth risk: a..:

Elias, Dario E. ; Santos, Maria R. ; Campaña, Hebe...
Journal of Community Genetics.  13 (2022)  6 - p. 557-565 , 2022
Link: https://doi.org/10.1007/..
 
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