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Raggio, Víctor
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1

WCN24-864 Alport Syndrome: genetic variants, phenotypes of ..:

Yandian, Federico ; Spangenberg, Lucía ; Raggio, Víctor...
Kidney International Reports.  9 (2024)  4 - p. S335-S336 , 2024
Link: https://doi.org/10.1016/..
 
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2

Two compound heterozygous variants in the CLN8 gene are res..:

Baltar, Federico ; Simoes, Camila ; Garagorry, Francisco...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

Parkinson's Disease Gene Screening in Familial Cases from C..:

Lorenzo‐Betancor, Oswaldo ; Mehta, Seysha ; Ramchandra, Janvi...
Movement Disorders.  , 2024
Link: https://doi.org/10.1002/..
 
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4

Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene..:

Raggio, Víctor ; Rodríguez, Soledad ; Feder, Sandra..
Diagnostics.  14 (2024)  3 - p. 313 , 2024
Link: https://doi.org/10.3390/..
 
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5

Computational and mitochondrial functional studies of novel..:

Raggio, Víctor ; Graña, Martín ; Winiarski, Erik...
Human Genomics.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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6

Case Report: Mycosis fungoides as an exclusive manifestatio..:

Spangenberg, María Noel ; Grille, Sofía ; Simoes, Camila...
Frontiers in Oncology.  13 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

Preparing the workforce for genomic medicine: International..:

, In: Genomic Medicine Skills and Competencies,
Johnson, Desalyn L. ; Korf, Bruce R. ; Ascurra, Marta... - p. 131-139 , 2022
Link: https://doi.org/10.1016/..
 
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8

Polygenic risk prediction and SNCA haplotype analysis in a ..:

Loesch, Douglas P. ; Horimoto, Andrea R.V.R. ; Sarihan, Elif Irem...
Parkinsonism & Related Disorders.  102 (2022)  - p. 7-15 , 2022
Link: https://doi.org/10.1016/..
 
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9

Contributors:

, In: Genomic Medicine Skills and Competencies,
Abadingo, Michelle E. ; Ascurra, Marta ; Bishop, Michelle... - p. ix-x , 2022
Link: https://doi.org/10.1016/..
 
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10

Novel frameshift mutation in LIS1 gene is a probable cause ..:

Simoes, Camila ; Graña, Martín ; Rodriguez, Soledad...
BMC Pediatrics.  22 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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11

Blood cell respiration rates and mtDNA copy number: A promi..:

Alonso, Martina ; Zabala, Cristina ; Mansilla, Santiago...
Mitochondrion.  61 (2021)  - p. 31-43 , 2021
Link: https://doi.org/10.1016/..
 
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12

Novel frameshift mutation in PURA gene causes severe enceph..:

Spangenberg, Lucía ; Guecaimburú, Rosario ; Tapié, Alejandra...
Molecular Genetics & Genomic Medicine.  9 (2021)  5 - p. , 2021
Link: https://doi.org/10.1002/..
 
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13

Tracing the Distribution of European Lactase Persistence Ge..:

Guimarães Alves, Ana Cecília ; Sukow, Natalie Mary ; Adelman Cipolla, Gabriel...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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14

Characterizing the Genetic Architecture of Parkinson's Dise..:

Loesch, Douglas P. ; Horimoto, Andrea R. V. R. ; Heilbron, Karl...
Annals of Neurology.  90 (2021)  3 - p. 353-365 , 2021
Link: https://doi.org/10.1002/..
 
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15

Whole genome sequencing reveals a frameshift mutation and a..:

Raggio, Víctor ; Dell'Oca, Nicolas ; Simoes, Camila...
Human Genomics.  15 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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