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Caio Robledo Quaio
49  Ergebnisse:
Personensuche X
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1

Impact of ERT and follow-up of 17 patients from the same fa..:

Stephan, Bruno de Oliveira ; Quaio, Caio Robledo ; Spolador, Gustavo Marquezani...
Clinics.  77 (2022)  - p. 100082 , 2022
Link: https://doi.org/10.1016/..
 
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2

Diagnostic power and clinical impact of exome sequencing in..:

Quaio, Caio Robledo ; Moreira, Caroline Monaco ; Novo Filho, Gil Monteiro...
Molecular Genetics and Metabolism.  132 (2021)  - p. S73 , 2021
Link: https://doi.org/10.1016/..
 
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3

Biochemical profile in an infant with neonatal hemochromato..:

Bastos, Karina Lucio de Medeiros ; Quaio, Caio Robledo ; Lima, Fabiana Roberto...
Clinical and Molecular Hepatology.  25 (2019)  1 - p. 86-91 , 2019
Link: https://doi.org/10.3350/..
 
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4

New insights in mucopolysaccharidosis type VI: Neurological..:

Borlot, Felippe ; Arantes, Paula Ricci ; Quaio, Caio Robledo...
Brain and Development.  36 (2014)  7 - p. 585-592 , 2014
Link: https://doi.org/10.1016/..
 
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5

Mucopolysaccharidosis type IVA: Evidence of primary and sec..:

Borlot, Felippe ; Arantes, Paula Ricci ; Quaio, Caio Robledo...
American Journal of Medical Genetics Part A.  164 (2014)  5 - p. 1162-1169 , 2014
Link: https://doi.org/10.1002/..
 
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6

Biochemical profile in an infant with neonatal hemochromato..:

Karina Lucio de Medeiros Bastos ; Caio Robledo Quaio ; Fabiana Roberto Lima...
http://e-cmh.org/upload/pdf/cmh-2018-0005.pdf.  , 2019
Link: https://doi.org/10.3350/..
 
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7

Discrepant outcomes in two Brazilian patients with Bloom sy..:

Moreira, Marilia Borges ; Quaio, Caio Robledo DC ; Zandoná-Teixeira, Aline Cristina...
Journal of Medical Case Reports.  7 (2013)  1 - p. , 2013
Link: https://doi.org/10.1186/..
 
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8

EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENO..:

CAVICHIO, Marcia Wehba Esteves ; QUAIO, Caio Robledo D'Angioli Costa ; BARATELA, Wagner Antonio da Rosa..
Arquivos de Gastroenterologia.  61 (2024)  - p. , 2024
Link: https://doi.org/10.1590/..
 
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9

The hospital Israelita Albert Einstein standards for consti..:

Quaio, Caio Robledo D'Angioli Costa ; Ceroni, José Ricardo Magliocco ; Pereira, Michele Araújo...
Human Genomics.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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10

Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight ..:

Montenegro, Marília Moreira ; Camilotti, Débora ; Quaio, Caio Robledo D'Anglioli Costa...
The Journal of Pediatrics.  252 (2023)  - p. 56-60.e2 , 2023
Link: https://doi.org/10.1016/..
 
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11

Parental segregation study reveals rare benign and likely b..:

Quaio, Caio Robledo D.'Angioli Costa ; Ceroni, Jose Ricardo Magliocco ; Cervato, Murilo Castro...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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12

Frequency of carriers for rare metabolic diseases in a Braz..:

Quaio, Caio Robledo D' Angioli Costa ; Moreira, Caroline Monaco ; Chung, Christine Hsiaoyun...
Molecular Biology Reports.  49 (2022)  5 - p. 3911-3918 , 2022
Link: https://doi.org/10.1007/..
 
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13

Expansion and mechanistic insights into de novo DEAF1 varia..:

McGee, Stacey R ; Rajamanickam, Shivakumar ; Adhikari, Sandeep...
Human Molecular Genetics.  32 (2022)  3 - p. 386-401 , 2022
Link: https://doi.org/10.1093/..
 
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14

Exome sequencing of 500 Brazilian patients with rare diseas..:

Quaio, Caio Robledo D'Angioli Costa ; Moreira, Caroline Monaco ; Chung, Christine Hsiaoyun...
Sao Paulo Medical Journal.  140 (2022)  5 - p. 734-736 , 2022
Link: https://doi.org/10.1590/..
 
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15

Genomic study of nonsyndromic hearing loss in unaffected in..:

Quaio, Caio Robledo D' Angioli Costa ; Coelho, Antonio Victor Campos ; Moura, Livia Maria Silva...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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