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MYH1 is a candidate gene for recurrent rhabdomyolysis in humans

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2131-2135

2021

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A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings

Frontiers in immunology, 2021-01, Vol.11, p.599564-599564

2021

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Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

Frontiers in genetics, 2020-05, Vol.11, p.368-368

2020

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SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

Frontiers in molecular neuroscience, 2022-06, Vol.15, p.877258-877258

2022

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Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy

Pediatric neurology, 2024-02, Vol.151, p.68-72

2024

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An open-source, automated, and cost-effective platform for COVID-19 diagnosis and rapid portable genomic surveillance using nanopore sequencing

Scientific reports, 2023-11, Vol.13 (1), p.20349-20349, Article 20349

2023

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Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease

iScience, 2021-03, Vol.24 (3), p.102214-102214, Article 102214

2021

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Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

The EMBO journal, 2018-12, Vol.37 (23), p.n/a

2018

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Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia

Frontiers in pediatrics, 2021-04, Vol.9, p.582816-582816

2021

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Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders

Parkinsonism & related disorders, 2023-03, Vol.108, p.105323-105323, Article 105323

2023

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Interleukin-26 activates macrophages and facilitates killing of Mycobacterium tuberculosis

Scientific reports, 2020-10, Vol.10 (1), p.17178-17178, Article 17178

2020

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The tools of the last Neanderthals: Morphotechnical characterisation of the lithic industry at level IV of Gorham’s Cave, Gibraltar

Quaternary international, 2012-01, Vol.247 (9), p.151-161

2012

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Analytical metrology for nanomaterials: Present achievements and future challenges

Analytica chimica acta, 2019-06, Vol.1059, p.1-15

2019

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Body frame size, body image, self‐esteem, and health‐related quality of life in schoolchildren

American journal of human biology, 2019-09, Vol.31 (5), p.e23294-n/a

2019

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Leveraging AI Advances and Online Tools for Structure‐Based Variant Analysis

Current protocols, 2023-08, Vol.3 (8), p.e857-n/a

2023

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Body frame size in school children is related to the amount of adipose tissue in different depots but not to adipose distribution

American journal of human biology, 2017-09, Vol.29 (5), p.n/a

2017

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Magnetic nanoparticles—carbon nanotubes hybrid composites for selective solid-phase extraction of polycyclic aromatic hydrocarbons and determination by ultra-high performance liquid chromatography

Analytical and bioanalytical chemistry, 2017-08, Vol.409 (21), p.5125-5132

2017

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Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures

Neurogenetics, 2019-05, Vol.20 (2), p.109-115

2019

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Error feedback and the acquisition of geographical representations

Applied cognitive psychology, 2008-11, Vol.22 (7), p.979-995

2008

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Rapid assessment of silver nanoparticle migration from food containers into food simulants using a qualitative method

Food chemistry, 2021-11, Vol.361, p.130091-130091, Article 130091

2021

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Comparative Effects of Triflusal, S-Adenosylmethionine, and Dextromethorphan over Intestinal Ischemia/Reperfusion Injury

TheScientificWorld, 2011-01, Vol.11, p.1886-1892

2011

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Thermal fluctuations near a phase transition probed through the electrical resistivity of high-temperature superconductors

American journal of physics, 2010-03, Vol.78 (3), p.310-316

2010

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Fast and non-invasive conductivity determination by the dielectric response of reduced graphene oxide: an electrostatic force microscopy study

Nanoscale, 2012-01, Vol.4 (22), p.7231-7236

2012

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Magnetic cellulose nanoparticles as sorbents for stir bar-sorptive dispersive microextraction of polychlorinated biphenyls in juice samples

Talanta (Oxford), 2019-08, Vol.201, p.266-270

2019

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Causas de mortalidad por enfermedades psiquiátricas en Jerez de los Caballeros (Badajoz, España) en el siglo XIX

Revista de Neuro-Psiquiatría, 2017-09, Vol.80 (3), p.158-164

2017

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MYH1 is a candidate gene for recurrent rhabdomyolysis in humans

A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings

Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy

An open-source, automated, and cost-effective platform for COVID-19 diagnosis and rapid portable genomic surveillance using nanopore sequencing

Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia

Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders

Interleukin-26 activates macrophages and facilitates killing of Mycobacterium tuberculosis

The tools of the last Neanderthals: Morphotechnical characterisation of the lithic industry at level IV of Gorham’s Cave, Gibraltar

Analytical metrology for nanomaterials: Present achievements and future challenges

Body frame size, body image, self‐esteem, and health‐related quality of life in schoolchildren

Leveraging AI Advances and Online Tools for Structure‐Based Variant Analysis

Body frame size in school children is related to the amount of adipose tissue in different depots but not to adipose distribution

Magnetic nanoparticles—carbon nanotubes hybrid composites for selective solid-phase extraction of polycyclic aromatic hydrocarbons and determination by ultra-high performance liquid chromatography

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures

Error feedback and the acquisition of geographical representations

Rapid assessment of silver nanoparticle migration from food containers into food simulants using a qualitative method

Comparative Effects of Triflusal, S-Adenosylmethionine, and Dextromethorphan over Intestinal Ischemia/Reperfusion Injury

Thermal fluctuations near a phase transition probed through the electrical resistivity of high-temperature superconductors

Fast and non-invasive conductivity determination by the dielectric response of reduced graphene oxide: an electrostatic force microscopy study

Magnetic cellulose nanoparticles as sorbents for stir bar-sorptive dispersive microextraction of polychlorinated biphenyls in juice samples

Causas de mortalidad por enfermedades psiquiátricas en Jerez de los Caballeros (Badajoz, España) en el siglo XIX

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