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1.
Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years.
Ann Hum Genet
; 84(1): 11-28, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31418856
2.
GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases.
BMC Bioinformatics
; 19(1): 25, 2018 01 27.
Article
in English
| MEDLINE | ID: mdl-29374474
3.
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Genet Res (Camb)
; 97: e10, 2015.
Article
in English
| MEDLINE | ID: mdl-25989649
4.
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Neurology
; 102(7): e209174, 2024 Apr 09.
Article
in English
| MEDLINE | ID: mdl-38513194
5.
The cerebellum and embodied semantics: evidence from a case of genetic ataxia due to STUB1 mutations.
J Med Genet
; 54(2): 114-124, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27811304
6.
SLC6A4 gene variants and temporal lobe epilepsy susceptibility: a meta-analysis.
Mol Biol Rep
; 39(12): 10615-9, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23065262
7.
A familiar study on self-limited childhood epilepsy patients using hIPSC-derived neurons shows a bias towards immaturity at the morphological, electrophysiological and gene expression levels.
Stem Cell Res Ther
; 12(1): 590, 2021 11 25.
Article
in English
| MEDLINE | ID: mdl-34823607
8.
Comparison of commercial lateral flow immunoassays and ELISA for SARS-CoV-2 antibody detection.
J Clin Virol
; 129: 104529, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32659710
9.
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism.
Parkinsonism Relat Disord
; 77: 21-25, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32590294
10.
DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family.
Epileptic Disord
; 21(1): 42-47, 2019 Feb 01.
Article
in English
| MEDLINE | ID: mdl-30767899
11.
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
PLoS One
; 13(2): e0191228, 2018.
Article
in English
| MEDLINE | ID: mdl-29389947
12.
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
PLoS One
; 12(9): e0185103, 2017.
Article
in English
| MEDLINE | ID: mdl-28953922
13.
Tratamiento quirúrgico de aneurisma de aorta abdominal en paciente con riñón único de localización pélvica / Surgical treatment of abdominal aortic aneurysm with solitary pelvic kidney
Angiol. (Barcelona)
; 73(6): 292-295, Nov-Dic. 2021. ilus
Article
in Spanish, Portuguese
| IBECS (Spain) | ID: ibc-216376
14.
Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.
PLoS One
; 10(2): e0116358, 2015.
Article
in English
| MEDLINE | ID: mdl-25646853
15.
Superior Neuroprotective Efficacy of LAU-0901, a Novel Platelet-Activating Factor Antagonist, in Experimental Stroke.
Transl Stroke Res
; 3(1): 154-63, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22408693
16.
Timely diagnosis of Wilson's disease using whole exome sequencing.
Parkinsonism Relat Disord
; 21(11): 1375-7, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26410678
17.
Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations.
Neurology
; 83(3): 287-8, 2014 Jul 15.
Article
in English
| MEDLINE | ID: mdl-24928119
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