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Perez Maturo, J.
27  Ergebnisse:
Personensuche X
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1

Overwhelming genetic heterogeneity and exhausting molecular..:

Perez Maturo, J. ; Zavala, L. ; Vega, P....
Journal of Human Genetics.  65 (2020)  10 - p. 895-902 , 2020
Link: https://doi.org/10.1038/..
 
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2

Alternative end-joining originates stable chromosome aberra..:

de Campos Nebel, Marcelo ; Palmitelli, Micaela ; Pérez Maturo, Josefina.
Chromosome Research.  30 (2022)  4 - p. 459-476 , 2022
Link: https://doi.org/10.1007/..
 
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3

Genomic variability:

, In: Genome Plasticity in Health and Disease,
Perez Maturo, Josefina ; Salinas, Valeria ; Kauffman, Marcelo A. - p. 63-75 , 2020
Link: https://doi.org/10.1016/..
 
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4

Contributors:

, In: Genome Plasticity in Health and Disease,
Ademuwagun, Ibitayo ; Akika, R. ; Anitha, Ayyappan... - p. xi-xiv , 2020
Link: https://doi.org/10.1016/..
 
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5

Novel Variants inATMCausing MildAtaxia‐Telangiectasia: From..:

Perez Maturo, Josefina ; Gonzalez Cid, Marcela ; Zavala, Lucia..
Movement Disorders Clinical Practice.  7 (2020)  6 - p. 727-729 , 2020
Link: https://doi.org/10.1002/..
 
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6

A Family with Late‐Onset and Predominant Choreic Niemann Pi..:

Rodriguez‐Quiroga, Sergio ; Zavala, Lucia ; Pérez Maturo, Josefina...
Movement Disorders Clinical Practice.  7 (2020)  3 - p. 332-334 , 2020
Link: https://doi.org/10.1002/..
 
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7

Inferring parental gonadal mosaicism in LMNA‐associated mus..:

Perez Maturo, Josefina ; Vega, Patricia ; Medina, Nancy...
American Journal of Medical Genetics Part A.  179 (2019)  6 - p. 1074-1076 , 2019
Link: https://doi.org/10.1002/..
 
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8

Molecular Diagnosis in an Argentinean Mitochondrial Disorde..:

Martinez, Nerina ; Rosales, Julieta ; Medina, Nancy...
Journal of Inborn Errors of Metabolism and Screening.  9 (2021)  - p. , 2021
Link: https://doi.org/10.1590/..
 
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9

Identification of a somatic mutation in the RHEB gene throu..:

Salinas, Valeria ; Vega, Patricia ; Piccirilli, María Victoria...
European Journal of Medical Genetics.  62 (2019)  11 - p. 103571 , 2019
Link: https://doi.org/10.1016/..
 
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10

Whole exome sequencing in neurogenetic odysseys: An effecti..:

Córdoba, Marta ; Rodriguez-Quiroga, Sergio Alejandro ; Vega, Patricia Analía...
PLOS ONE.  13 (2018)  2 - p. e0191228 , 2018
Link: https://doi.org/10.1371/..
 
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11

Serotonergic polymorphisms: Allelic and genotypic frequency..:

Perez Maturo, J ; Videla, Y ; Di Gerónimo, V.
http://hdl.handle.net/20.500.12110/paper_16660390_v28_n1_p41_PerezMaturo.  ,
Link: https://hdl.handle.net/2..
 
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12

Clinical next generation sequencing in developmental and ep..:

Salinas, Valeria ; Martínez, Nerina ; Maturo, Josefina Pérez...
European Journal of Medical Genetics.  64 (2021)  12 - p. 104363 , 2021
Link: https://doi.org/10.1016/..
 
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13

Overwhelming genetic heterogeneity and exhausting molecular..:

Zavala, Lucia ; Maturo, Josefina Perez ; Rodriguez-Quiroga, Sergio...
Neurology.  92 (2019)  15_supplement - p. , 2019
Link: https://doi.org/10.1212/..
 
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14

Novel Variants in ATM Causing Mild Ataxia‐Telangiectasia: F..:

Perez Maturo, Josefina ; Gonzalez Cid, Marcela ; Zavala, Lucia..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396874/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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15

A Family with Late‐Onset and Predominant Choreic Niemann Pi..:

Rodriguez‐Quiroga, Sergio ; Zavala, Lucia ; Pérez Maturo, Josefina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7111585/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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