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1.
The odyssey of complex neurogenetic disorders: From undetermined to positive.
Am J Med Genet C Semin Med Genet
; 184(4): 876-884, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33084218
2.
Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype.
Am J Med Genet B Neuropsychiatr Genet
; 174(7): 663-670, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28901686
3.
Cell periphery-related proteins as major genomic targets behind the adaptive evolution of an industrial Saccharomyces cerevisiae strain to combined heat and hydrolysate stress.
BMC Genomics
; 16: 514, 2015 Jul 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-26156140
4.
Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.
Am J Med Genet A
; 179(6): 1074-1076, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30912254
5.
Furaldehyde substrate specificity and kinetics of Saccharomyces cerevisiae alcohol dehydrogenase 1 variants.
Microb Cell Fact
; 13: 112, 2014 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-25287956
6.
Self-Diagnosis of SARS-CoV-2 from Saliva Samples at Home: Isothermal Amplification Enabled by Do-It-Yourself Portable Incubators and Laminated Poly-ethyl Sulfonate Membranes.
Diagnostics (Basel)
; 14(2)2024 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38275468
7.
Targeting mTOR to overcome resistance to hormone and CDK4/6 inhibitors in ER-positive breast cancer models.
Sci Rep
; 13(1): 2710, 2023 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36792625
8.
Influence of Physical Fitness, Anthropometric Profile, and Biological Maturation on Technical Performance and Enjoyment of Untrained Children Who Participate in Continuous and Fractional Small-Sided Games.
Children (Basel)
; 9(11)2022 Nov 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36421179
9.
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.
Eur J Med Genet
; 64(12): 104363, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34673242
10.
Beyond the Categorical Distinction Between Borderline Personality Disorder and Bipolar II Disorder Through the Identification of Personality Traits Profiles.
Front Psychiatry
; 11: 552, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32922312
11.
SERT and BDNF polymorphisms interplay on neuroticism in borderline personality disorder.
BMC Res Notes
; 13(1): 61, 2020 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32033618
12.
Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.
Eur J Med Genet
; 62(11): 103571, 2019 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-30414531
13.
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
PLoS One
; 13(2): e0191228, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29389947
14.
Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort
J. inborn errors metab. screen
; 9: e20200020, 2021. tab, graf
Artículo
en Inglés
|
LILACS-Express
| ID: biblio-1154712
15.
Re-assessment of YAP1 and MCR1 contributions to inhibitor tolerance in robust engineered Saccharomyces cerevisiae fermenting undetoxified lignocellulosic hydrolysate.
AMB Express
; 4: 56, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25147754
16.
Adaptive evolution of an industrial strain of Saccharomyces cerevisiae for combined tolerance to inhibitors and temperature.
Biotechnol Biofuels
; 6(1): 151, 2013 Oct 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-24139317
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