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Romero, Vanessa I.
1678  Ergebnisse:
Personensuche X
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1

AARS and CACNA1A mutations: diagnostic insights into a case..:

Romero, Vanessa I. ; Sáenz, Samantha ; Arias-Almeida, Benjamín..
Frontiers in Neurology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

TTN novel splice variant in familial dilated cardiomyopathy..:

León, Paul ; Franco, Paula ; Hinojosa, Nicole...
Frontiers in Cardiovascular Medicine.  11 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

Navigating phenylketonuria management to improve it in Lati..:

Aguirre, Alex S. ; Haro, Edison ; Campodónico, Alberto...
Frontiers in Nutrition.  11 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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4

HLA allelic diversity in the Waorani population of Ecuador:..:

Saenz Hinojosa, Samantha ; Adrian Jinam, Timothy ; Hosomichi, Kazuyoshi.
Human Immunology.  85 (2024)  3 - p. 110771 , 2024
Link: https://doi.org/10.1016/..
 
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5

Diagnosis challenges in CHARGE syndrome: A novel variant an..:

Saenz Hinojosa, Samantha ; Reyes, Carlos ; Romero, Vanessa I.
Heliyon.  10 (2024)  6 - p. e28024 , 2024
Link: https://doi.org/10.1016/..
 
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6

Unmet needs in countries participating in the undiagnosed d..:

Sciascia, Savino ; Roccatello, Dario ; Salvatore, Marco...
Frontiers in Public Health.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

Genética molecular en la clínica: una herramientanecesaria ..:

Romero, Vanessa I
Metro Ciencia.  30 (2023)  1 - p. 85-88 , 2023
Link: https://doi.org/10.47464..
 
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8

COL1A1 novel splice variant in osteogenesis imperfecta and ..:

Dirani, Michella ; Cuenca, Victor D. ; Romero, Vanessa I.
Frontiers in Surgery.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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9

Novel Variation in Acyl-CoA Synthetase Long Chain Family Me..:

Castillo, María Isabel ; Freire, Erick ; Romero, Vanessa I....
Frontiers in Oncology.  12 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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10

NSD1 gene evolves under episodic selection within primates ..:

Romero, Vanessa I. ; Arias-Almeida, Benjamin ; Aguiar, Stefanie A.
BMC Genomics.  23 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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11

Novel SRY-box transcription factor 9 variant in campomelic ..:

Calvache, Carlos A. ; Vásquez, Estefanía C. ; Romero, Vanessa I...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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12

The limits of clinical findings in similar phenotypes, from..:

Sáenz, Samantha S. ; Arias, Benjamin ; Hosomichi, Kazuyoshi.
Human Genomics.  15 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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13

Unmet needs in countries participating in the undiagnosed d..:

Sciascia, Savino ; Roccatello, Dario ; Salvatore, Marco...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10562568/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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14

Unmet needs in countries participating in the undiagnosed d..:

Sciascia, Savino ; Roccatello, Dario ; Salvatore, Marco...
https://doi.org/10.3389/fpubh.2023.1248260.  , 2023
Link: https://hdl.handle.net/2..
 
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15

COL1A1 novel splice variant in osteogenesis imperfecta and ..:

Dirani, Michella ; Cuenca, Victor D ; Romero, Vanessa I
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632975/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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