Volume4, Issue0 (2020)

Journal of Translational Genetics and Genomics

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Journal of Translational Genetics and Genomics

ISSN 2578-5281 (Online)

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Volume

Table of Contents (30 articles)

Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment

DeepGestalt analysis of the SETD5-associated intellectual disability syndrome

Redefining infantile-onset multisystem phenotypes of coenzyme Q₁₀-deficiency in the next-generation sequencing era

Cryogenic electron paramagnetic resonance spectroscopy of flash-frozen tissue for characterization of mitochondrial disease

Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability

Mitochondrial translation defects and human disease

The North American mitochondrial disease registry

Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study

Intellectual disability, the long way from genes to biological mechanisms

Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome

Cell-free DNA as a potential biomarker in stroke: a comprehensive review of observational studies

EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome

Advancement in the diagnosis of mitochondrial diseases

New diagnostic pathways for mitochondrial disease

Historical analysis of suicide

The influence of CYP enzymes and ABCB1 on treatment outcomes in schizophrenia: association of CYP1A2 activity with adverse effects

Spectrum of movement disorders in mitochondrial diseases

Human induced pluripotent cells in personalized treatment of monogenic epilepsies

Animal models of autism: a perspective from autophagy mechanisms

A review of the pharmacogenomics of buprenorphine for the treatment of opioid use disorder

Precision medicine in early-onset epilepsy: the KCNQ2 paradigm

Riboflavin metabolism: role in mitochondrial function

Chromodomain helicase DNA-binding proteins and neurodevelopmental disorders

Mycophenolic acid pharmacogenomics in kidney transplantation

Global view on the pathogenesis of benign thyroid disease based on historical, experimental, biochemical and genetic data, identifying the role of magnesium, selenium, coenzyme Q10 and iron in the context of the unfolded protein response and protein quali

Mitochondrial diseases: expanding the diagnosis in the era of genetic testing

Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism

Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study

Adenoid cystic carcinoma of the prostate: an unusual subtype of prostate cancer

Translational aspects in neurodevelopmental disorders

Actions for 0 selected articles

Committee on Publication Ethics

Portico

Committee on Publication Ethics

Portico

Volume

Table of Contents (30 articles)

Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment

DeepGestalt analysis of the SETD5-associated intellectual disability syndrome

Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era

Cryogenic electron paramagnetic resonance spectroscopy of flash-frozen tissue for characterization of mitochondrial disease

Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability

Mitochondrial translation defects and human disease

The North American mitochondrial disease registry

Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study

Intellectual disability, the long way from genes to biological mechanisms

Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome

Cell-free DNA as a potential biomarker in stroke: a comprehensive review of observational studies

EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome

Advancement in the diagnosis of mitochondrial diseases

New diagnostic pathways for mitochondrial disease

Historical analysis of suicide

The influence of CYP enzymes and ABCB1 on treatment outcomes in schizophrenia: association of CYP1A2 activity with adverse effects

Spectrum of movement disorders in mitochondrial diseases

Human induced pluripotent cells in personalized treatment of monogenic epilepsies

Animal models of autism: a perspective from autophagy mechanisms

A review of the pharmacogenomics of buprenorphine for the treatment of opioid use disorder

Precision medicine in early-onset epilepsy: the KCNQ2 paradigm

Riboflavin metabolism: role in mitochondrial function

Chromodomain helicase DNA-binding proteins and neurodevelopmental disorders

Mycophenolic acid pharmacogenomics in kidney transplantation

Global view on the pathogenesis of benign thyroid disease based on historical, experimental, biochemical and genetic data, identifying the role of magnesium, selenium, coenzyme Q10 and iron in the context of the unfolded protein response and protein quali

Mitochondrial diseases: expanding the diagnosis in the era of genetic testing

Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism

Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study

Adenoid cystic carcinoma of the prostate: an unusual subtype of prostate cancer

Translational aspects in neurodevelopmental disorders

Actions for 0 selected articles

Committee on Publication Ethics

Portico

Committee on Publication Ethics

Portico

Redefining infantile-onset multisystem phenotypes of coenzyme Q₁₀-deficiency in the next-generation sequencing era