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Publications by Maria Arvio

Heterozygous Loss of Function of IQSEC2/Iqsec2 Leads to Increased Activated Arf6 and Severe Neurocognitive Seizure Phenotype in Females

Life Science Alliance

English

Continuous Spike-Wave in Slow Wave Sleep (CSWS) Mimicking Dementia in a 55-Year-Old Man With Intellectual Disability

English

Related publications

Loss of Methyltransferase Function and Increased Efflux Activity Leads to Doxycycline Resistance in Burkholderia Pseudomallei

Antimicrobial Agents and Chemotherapy

Infectious Diseases

Pharmacology

2017

English

Loss of 26S Proteasome Function Leads to Increased Cell Size and Decreased Cell Number in Arabidopsis Shoot Organs

English

Marine Deforestation Leads to Widespread Loss of Ecosystem Function

PLoS ONE

Multidisciplinary

2020

English

Loss of TOP3B Leads to Increased R-Loop Formation and Genome Instability

English

Genetic Variants in SCN5A Promoter Are Associated With Arrhythmia Phenotype Severity in Patients With Heterozygous Loss-Of-Function Mutation

Heart Rhythm

Cardiovascular Medicine

Physiology

Cardiology

2012

English

Loss of Parkin Impairs Mitochondrial Function and Leads to Muscle Atrophy

American Journal of Physiology - Cell Physiology

Physiology

Cell Biology

2018

English

Disruption of the IQSEC2 Transcript in a Female With X;autosome Translocation T(X;20)(p11.2;q11.2) and a Phenotype Resembling X-Linked Infantile Spasms (ISSX) Syndrome

Molecular Medicine Reports

English

Wip1 Inhibition Leads to Severe Pro-Inflammatory Phenotype in Skin in Response to Chemical Irritation

Journal of Dermatological Science

English

Heterozygous Inactivating CaSR Mutations Causing Neonatal Hyperparathyroidism: Function, Inheritance and Phenotype

European Journal of Endocrinology

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Maria Arvio

Heterozygous Loss of Function of IQSEC2/Iqsec2 Leads to Increased Activated Arf6 and Severe Neurocognitive Seizure Phenotype in Females

Continuous Spike-Wave in Slow Wave Sleep (CSWS) Mimicking Dementia in a 55-Year-Old Man With Intellectual Disability

Related publications

Loss of Methyltransferase Function and Increased Efflux Activity Leads to Doxycycline Resistance in Burkholderia Pseudomallei

Loss of 26S Proteasome Function Leads to Increased Cell Size and Decreased Cell Number in Arabidopsis Shoot Organs

Marine Deforestation Leads to Widespread Loss of Ecosystem Function

Loss of TOP3B Leads to Increased R-Loop Formation and Genome Instability

Genetic Variants in SCN5A Promoter Are Associated With Arrhythmia Phenotype Severity in Patients With Heterozygous Loss-Of-Function Mutation

Loss of Parkin Impairs Mitochondrial Function and Leads to Muscle Atrophy

Disruption of the IQSEC2 Transcript in a Female With X;autosome Translocation T(X;20)(p11.2;q11.2) and a Phenotype Resembling X-Linked Infantile Spasms (ISSX) Syndrome

Wip1 Inhibition Leads to Severe Pro-Inflammatory Phenotype in Skin in Response to Chemical Irritation

Heterozygous Inactivating CaSR Mutations Causing Neonatal Hyperparathyroidism: Function, Inheritance and Phenotype