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Cordoba, Marta
666  Ergebnisse:
Personensuche X
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1

Expanding the Clinical Spectrum ofDRP2-Associated Charcot-M..:

Sivera, Rafael ; Pelayo-Negro, Ana L. ; Jericó, Ivonne...
Neurology.  102 (2024)  7 - p. , 2024
Link: https://doi.org/10.1212/..
 
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2

A familiar study on self-limited childhood epilepsy patient..:

Casalia, Mariana L. ; Casabona, Juan Cruz ; García, Corina...
Stem Cell Research & Therapy.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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3

A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian wo..:

Gatto, Emilia M. ; Rojas, Galeno J. ; Nemirovsky, Sergio I....
Parkinsonism & Related Disorders.  77 (2020)  - p. 21-25 , 2020
Link: https://doi.org/10.1016/..
 
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4

DEPDC5 mutation and familial focal epilepsy with variable f..:

Aberastury, Marina ; Fernández, Romina ; Córdoba, Marta...
Epileptic Disorders.  21 (2019)  1 - p. 42-47 , 2019
Link: https://doi.org/10.1684/..
 
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5

Argentinian clinical genomics in a leukodystrophies and gen..:

Cohen, Leila ; Manín, Analisa ; Medina, Nancy...
Annals of Human Genetics.  84 (2019)  1 - p. 11-28 , 2019
Link: https://doi.org/10.1111/..
 
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6

Argentinian Clinical Genomics in a Leukodystrophies and Gen..:

Cohen, Leila ; Manin, Analisa ; Medina, Nancy...
Neurology.  90 (2018)  15_supplement - p. , 2018
Link: https://doi.org/10.1212/..
 
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7

GenIO: a phenotype-genotype analysis web server for clinica..:

Koile, Daniel ; Cordoba, Marta ; de Sousa Serro, Maximiliano..
BMC Bioinformatics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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8

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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9

Germline and somatic mutations in cortical malformations: M..:

González-Morón, Dolores ; Vishnopolska, Sebastián ; Consalvo, Damián...
PLOS ONE.  12 (2017)  9 - p. e0185103 , 2017
Link: https://doi.org/10.1371/..
 
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10

DIAGNOSIS OF MITOCHONDRIAL DISEASES: UTILITY OF A CLINICAL-..:

Rosales, Julieta ; Medina, Nancy ; Martinez, Nerina...
Neurology.  88 (2017)  16_supplement - p. , 2017
Link: https://doi.org/10.1212/..
 
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11

Neurogenetics in Argentina: diagnostic yield in a personali..:

RODRÍGUEZ-QUIROGA, SERGIO ALEJANDRO ; CORDOBA, MARTA ; GONZÁLEZ-MORÓN, DOLORES...
Genetics Research.  97 (2015)  - p. , 2015
Link: https://doi.org/10.1017/..
 
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12

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation i..:

Nemirovsky, Sergio I. ; Córdoba, Marta ; Zaiat, Jonathan J....
PLOS ONE.  10 (2015)  2 - p. e0116358 , 2015
Link: https://doi.org/10.1371/..
 
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13

Timely diagnosis of Wilson's disease using whole exome sequ..:

Rodríguez-Quiroga, Sergio A. ; Rosales, Julieta ; Arakaki, Tomoko...
Parkinsonism & Related Disorders.  21 (2015)  11 - p. 1375-1377 , 2015
Link: https://doi.org/10.1016/..
 
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14

Ataxia plus myoclonus in a 23-year-old patient due toSTUB1m..:

Cordoba, Marta ; Rodriguez-Quiroga, Sergio ; Gatto, Emilia Mabel..
Neurology.  83 (2014)  3 - p. 287-288 , 2014
Link: https://doi.org/10.1212/..
 
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15

Sonogashira reaction on pyridinium N-haloheteroarylaminides..:

Córdoba, Marta ; Galájov, Miguel ; Izquierdo, M. Luisa.
Tetrahedron.  69 (2013)  11 - p. 2484-2493 , 2013
Link: https://doi.org/10.1016/..
 
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