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Trends in Educational Activity in the Field of Mechanism and Machine Theory (2018-2022): Selected Papers from ISEMMS 2022

1, 2023

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Endothelial dysfunction and preeclampsia: role of oxidative stress

Frontiers in physiology, 2014, Vol.5, p.372-372

2014

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Gene annotation errors are common in the mammalian mitochondrial genomes database

BMC genomics, 2019-01, Vol.20 (1), p.73-73, Article 73

2019

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Proceedings of the XV Ibero-American Congress of Mechanical Engineering: CIBIM 22 / CIBEM 22

1, 2023

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Long prereproductive selection and divergence by depth in a Caribbean candelabrum coral

Proceedings of the National Academy of Sciences - PNAS, 2013-03, Vol.110 (10), p.3961-3966

2013

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Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals

American journal of medical genetics. Part A, 2024-09, p.e63873

2024

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EMD-Based Methodology for the Identification of a High-Speed Train Running in a Gear Operating State

Sensors (Basel, Switzerland), 2018-03, Vol.18 (3), p.793

2018

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Early allograft dysfunction in a pediatric liver allograft with an occult pathogenic mutation in the urea cycle

American journal of transplantation, 2023-05, Vol.23 (5), p.673-675

2023

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Railway Axle Condition Monitoring Technique Based on Wavelet Packet Transform Features and Support Vector Machines

Sensors (Basel, Switzerland), 2020-06, Vol.20 (12), p.3575

2020

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Comparative genomic analysis of vertebrate mitochondrial reveals a differential of rearrangements rate between taxonomic class

Scientific reports, 2022-03, Vol.12 (1), p.5479-5479, Article 5479

2022

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Multiple paths toward repeated phenotypic evolution in the spiny‐leg adaptive radiation (Tetragnatha; Hawai'i)

Molecular ecology, 2023-09, Vol.32 (18), p.4971-4985

2023

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Clinical impact of Sim & Size® simulation software in the treatment of patients with cerebral aneurysms with flow-diverter Pipeline stents

Interventional neuroradiology, 2023-02, Vol.29 (1), p.47-55

2023

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Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1

The Journal of pediatrics, 2012-03, Vol.160 (3), p.461-467

2012

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The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1

The Journal of pediatrics, 2015-10, Vol.167 (4), p.851-856.e1

2015

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Complete mitochondrial genome of Phoneutria depilata (Araneae, Ctenidae): New insights into the phylogeny and evolution of spiders

Gene, 2023-01, Vol.850, p.146925-146925, Article 146925

2023

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First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B

Molecular therapy, 2022-12, Vol.30 (12), p.3587-3600

2022

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Enhancement of chromatographic spectral technique applied to a high‐speed train

Structural control and health monitoring, 2021-12, Vol.28 (12), p.n/a

2021

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Dandy–Walker malformation in an individual with ABL1 variant

American journal of medical genetics. Part A, 2024-10, Vol.194 (10), p.e63718-n/a

2024

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Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1

American journal of medical genetics. Part A, 2024-12, Vol.194 (12), p.e63835-n/a

2024

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Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease

Molecular genetics and metabolism, 2024-01, Vol.141 (1), p.107736-107736, Article 107736

2024

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Aminotransferase trends in propionic acidemia

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63659-n/a

2024

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Homozygosity for disease‐causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63622-n/a

2024

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A role for sustained MAPK activity in the mouse ventral telencephalon

Developmental biology, 2021-08, Vol.476, p.137-147

2021

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Intersexual Differences in the Gene Expression of Phoneutria depilata (Araneae, Ctenidae) Toxins Revealed by Venom Gland Transcriptome Analyses

Toxins, 2023-06, Vol.15 (7), p.429

2023

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The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

Molecular genetics and metabolism, 2022-05, Vol.136 (1), p.4-21

2022

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Trends in Educational Activity in the Field of Mechanism and Machine Theory (2018-2022): Selected Papers from ISEMMS 2022

Endothelial dysfunction and preeclampsia: role of oxidative stress

Gene annotation errors are common in the mammalian mitochondrial genomes database

Proceedings of the XV Ibero-American Congress of Mechanical Engineering: CIBIM 22 / CIBEM 22

Long prereproductive selection and divergence by depth in a Caribbean candelabrum coral

Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals

EMD-Based Methodology for the Identification of a High-Speed Train Running in a Gear Operating State

Early allograft dysfunction in a pediatric liver allograft with an occult pathogenic mutation in the urea cycle

Railway Axle Condition Monitoring Technique Based on Wavelet Packet Transform Features and Support Vector Machines

Comparative genomic analysis of vertebrate mitochondrial reveals a differential of rearrangements rate between taxonomic class

Multiple paths toward repeated phenotypic evolution in the spiny‐leg adaptive radiation (Tetragnatha; Hawai'i)

Clinical impact of Sim & Size® simulation software in the treatment of patients with cerebral aneurysms with flow-diverter Pipeline stents

Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1

Complete mitochondrial genome of Phoneutria depilata (Araneae, Ctenidae): New insights into the phylogeny and evolution of spiders

First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B

Enhancement of chromatographic spectral technique applied to a high‐speed train

Dandy–Walker malformation in an individual with ABL1 variant

Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1

Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease

Aminotransferase trends in propionic acidemia

Homozygosity for disease‐causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia

A role for sustained MAPK activity in the mouse ventral telencephalon

Intersexual Differences in the Gene Expression of Phoneutria depilata (Araneae, Ctenidae) Toxins Revealed by Venom Gland Transcriptome Analyses

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

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