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Donis, Karina Carvalho
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1

An adult with cystathionine beta-synthase deficiency, campt..:

Donis, Karina Carvalho ; Kalil, Marco Antônio Baptista ; Poswar, Fabiano...
Genetics and Molecular Biology.  47 (2024)  1 - p. , 2024
Link: https://doi.org/10.1590/..
 
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2

Empowerment of genetic information by women at-risk of bein..:

Hoefel, Alice Maria Luderitz ; Weschenfelder, Cesar Augusto ; Rosa, Bruna Faria..
Journal of Community Genetics.  15 (2024)  2 - p. 163-175 , 2024
Link: https://doi.org/10.1007/..
 
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3

Genetic profile of Brazilian patients with LAMA2‐related dy..:

Camelo, Clara Gontijo ; Moreno, Cristiane de Araujo Martins ; Artilheiro, Mariana da Cunha...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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4

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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5

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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6

Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child ..:

de Lima Silva, Elis Vanessa ; Donis, Karina Carvalho ; Machado, Fabiana Rita Camara...
Journal of Neuromuscular Diseases.  10 (2023)  6 - p. 1145-1149 , 2023
Link: https://doi.org/10.3233/..
 
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7

Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Syst..:

Tenorio, Renata Barreto ; Camargo, Carlos Henrique F. ; Donis, Karina Carvalho..
The Cerebellum.  , 2023
Link: https://doi.org/10.1007/..
 
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8

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a C..:

Calame, Daniel G. ; Herman, Isabella ; Maroofian, Reza...
Annals of Neurology.  92 (2022)  2 - p. 304-321 , 2022
Link: https://doi.org/10.1002/..
 
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9

Diagnostic Delay of Hereditary Ataxias in Brazil: the Case ..:

dos Santos Pinheiro, Jordânia ; Sena, Lucas Schenatto ; Donis, Karina Carvalho...
The Cerebellum.  22 (2022)  3 - p. 348-354 , 2022
Link: https://doi.org/10.1007/..
 
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10

Clinical and molecular characterization of a large cohort o..:

Giordani, Gabriela Marchisio ; Diniz, Fabrício ; Fussiger, Helena...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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11

Bi-allelic variants in the ectonucleotidase ENTPD1 cause a ..:

Calame, Daniel ; Herman, Isabella ; Marafie, Dana...
Neurology.  96 (2021)  15_supplement - p. , 2021
Link: https://doi.org/10.1212/..
 
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12

Elevated holo‐transcobalamin in Gaucher disease type II: A ..:

Basgalupp, Suelen Porto ; Donis, Karina Carvalho ; Siebert, Marina...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2471-2476 , 2021
Link: https://doi.org/10.1002/..
 
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13

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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14

Cardiovascular findings in classic homocystinuria:

Kalil, Marco Antônio Baptista ; Donis, Karina Carvalho ; Poswar, Fabiano de Oliveira...
Molecular Genetics and Metabolism Reports.  25 (2020)  - p. 100693 , 2020
Link: https://doi.org/10.1016/..
 
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15

Is the gut microbiota dysbiotic in patients with classical ..:

Rizowy, Gustavo Mottin ; Poloni, Soraia ; Colonetti, Karina...
Biochimie.  173 (2020)  - p. 3-11 , 2020
Link: https://doi.org/10.1016/..
 
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