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P-567 Is mosaic embryo transfer a valid alternative for patients lacking euploid embryos? a multicentric study from Argentina

Human reproduction (Oxford), 2024-07, Vol.39 (Supplement_1)

2024

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EP.62A series of unfortunate events: familial case of DMD, two different mutational events and skewed X chromosome inactivation in a pregnant woman

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S170-S171

2019

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Asesoramiento genético en hematología

Hematología (En línea), 2022, Vol.26 (1), p.43-46

Menazzi, S

2022

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Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

Scientific reports, 2022-01, Vol.12 (1), p.301-301, Article 301

2022

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Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON)

PloS one, 2023-02, Vol.18 (2), p.e0275703-e0275703

2023

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Enabling Resiliency Through Outage Management and Data-Driven Real-Time Aggregated DERs

IEEE transactions on industry applications, 2023-09, Vol.59 (5), p.1-11

2023

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Posterior Amorphous Corneal Dystrophy: New Chromosomal Breakpoints in the Small Leucine-Rich Proteoglycan-Coding Region

Cornea, 2022-04, Vol.41 (4), p.491-495

2022

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GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

Genes, 2020-10, Vol.11 (10), p.1233

2020

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Bioinformatics Architecture for Integrating Genomics Data into Electronic Health Records

Studies in health technology and informatics, 2024, Vol.310, p.996

2024

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Analysis of complex structural variants in the DMD gene in one family

Neuromuscular disorders : NMD, 2021-03, Vol.31 (3), p.253-263

2021

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Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina), 2024-03, Vol.81 (1), p.167-177

2024

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EMBRYONIC MOSAICISM IN PREIMPLANTATION GENETIC TESTING (PGT): EVALUATION OF VARIABLES THAT COULD AFFECT ITS FREQUENCY

Fertility and sterility, 2021-09, Vol.116 (3), p.e388-e388

2021

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First custom next-generation sequencing infertility panel in Latin America: design and first results

JBRA assisted reproduction, 2020, Vol.24 (2), p.104-114

2020

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Multiomix: a cloud-based platform to infer cancer genomic and epigenomic events associated with gene expression modulation

Bioinformatics (Oxford, England), 2022-01, Vol.38 (3), p.866-868

2022

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Reconfigurations of public policies in the eighties in Buenos Aires

Revista mexicana de sociología, 2014-01, Vol.76 (2), p.199-223

MENAZZI, LUJAN

2014

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Enabling Resiliency Through Outage Management and Data-Driven Real Time Aggregated DERs

2022 IEEE Industry Applications Society Annual Meeting (IAS), 2022, p.1-20

2022

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QUANTIFICATION OF THE MITOCHONDRIAL DNA TO ASSESS EMBRYO POTENTIAL AND ITS IMPACT ON REPRODUCTIVE OUTCOMES

Fertility and sterility, 2021-09, Vol.116 (3), p.e385-e385

2021

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Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)

PloS one, 2023-01, Vol.18 (2)

2023

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GJB 2 and GJB 6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

Genes, 2020-10, Vol.11 (10)

2020

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Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases

Archivos argentinos de pediatría, 2014-02, Vol.112 (1), p.26

2014

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Host genetic markers associated with severe COVID-19: A systematic review

Interamerican Journal of Health Sciences, 2021-12, Vol.1, p.44

2021

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Development, Implementation and Initial Results of CDSS Recommendations for Patients at Risk of Hereditary Breast Cancer

Studies in health technology and informatics, 2022-06, Vol.290, p.340

2022

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P-567 Is mosaic embryo transfer a valid alternative for patients lacking euploid embryos? a multicentric study from Argentina

EP.62A series of unfortunate events: familial case of DMD, two different mutational events and skewed X chromosome inactivation in a pregnant woman

Asesoramiento genético en hematología

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON)

Enabling Resiliency Through Outage Management and Data-Driven Real-Time Aggregated DERs

Posterior Amorphous Corneal Dystrophy: New Chromosomal Breakpoints in the Small Leucine-Rich Proteoglycan-Coding Region

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

Bioinformatics Architecture for Integrating Genomics Data into Electronic Health Records

Analysis of complex structural variants in the DMD gene in one family

Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin

EMBRYONIC MOSAICISM IN PREIMPLANTATION GENETIC TESTING (PGT): EVALUATION OF VARIABLES THAT COULD AFFECT ITS FREQUENCY

First custom next-generation sequencing infertility panel in Latin America: design and first results

Multiomix: a cloud-based platform to infer cancer genomic and epigenomic events associated with gene expression modulation

Reconfigurations of public policies in the eighties in Buenos Aires

Enabling Resiliency Through Outage Management and Data-Driven Real Time Aggregated DERs

QUANTIFICATION OF THE MITOCHONDRIAL DNA TO ASSESS EMBRYO POTENTIAL AND ITS IMPACT ON REPRODUCTIVE OUTCOMES

Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)

GJB 2 and GJB 6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases

Host genetic markers associated with severe COVID-19: A systematic review

Development, Implementation and Initial Results of CDSS Recommendations for Patients at Risk of Hereditary Breast Cancer

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