Journal of Translational Genetics and Genomics

Table of Contents (7 articles)

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

Andres Berardo, Catarina M. Quinzii

View Full-Text Download PDF

Page 22-35
Cryogenic electron paramagnetic resonance spectroscopy of flash-frozen tissue for characterization of mitochondrial disease

Brian Bennett

View Full-Text Download PDF

Page 36-49
Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability

Martin Franz, Lisa Hagenau, Lars R. Jensen, Andreas W. Kuss

View Full-Text Download PDF

Page 50-70
Mitochondrial translation defects and human disease

Bryn D. Webb, George A. Diaz, Pankaj Prasun

View Full-Text Download PDF

Page 71-80
The North American mitochondrial disease registry

Xiomara Q. Rosales, John L. P. Thompson, Richard Haas, Johan L. K. Van Hove, Amel Karaa, Danuta Krotoski, Kristin Engelstad, Richard Buchsbaum, Salvatore DiMauro, Michio Hirano, The North American Mitochondrial Disease Consortium

View Full-Text Download PDF

Page 81-90
Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study

Rajni Khajuria, Neerja Gupta, Kees E. P. van Roozendaal, Savita Sapra, Manju Ghosh, Sheffali Gulati, Eric E. J. Smeets, Leopold M. G. Curfs, Madhulika Kabra

View Full-Text Download PDF

Page 91-103
Intellectual disability, the long way from genes to biological mechanisms

Marcelo Marti, Maria Ines Perez Millan, Juan I. Young, Katherina Walz

View Full-Text Download PDF

Page 104-113

Hot Keywords

Table of Contents (7 articles)

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

Actions for selected articles

JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICS

Navigation

follow us

OAE Publishing Inc.

OAE JOURNALS

FOLLOW OAE

Hot Keywords

Table of Contents (7 articles)

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

Actions for selected articles

JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICS

Navigation

follow us

OAE Publishing Inc.

OAE JOURNALS

FOLLOW OAE

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