The promise of whole-exome sequencing in medical genetics
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …
DNA strands at once. These technologies are revolutionizing our understanding in medical …
Exome sequencing as a tool for Mendelian disease gene discovery
Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …
Very long-chain fatty acids: elongation, physiology and related disorders
A Kihara - The journal of biochemistry, 2012 - academic.oup.com
Very long-chain fatty acids (VLCFAs) are fatty acids (FAs) with a chain-length of≥ 22
carbons. Mammals have a variety of VLCFAs differing in chain-length and the number of …
carbons. Mammals have a variety of VLCFAs differing in chain-length and the number of …
Genomics, intellectual disability, and autism
HC Mefford, ML Batshaw… - New England Journal of …, 2012 - Mass Medical Soc
Genomics, Intellectual Disability, and Autism | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …
content The New England Journal of Medicine homepage Advanced Search SEARCH …
What can exome sequencing do for you?
Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …
shift in how medical researchers investigate both rare and common human disorders. The …
Disease gene identification strategies for exome sequencing
Next generation sequencing can be used to search for Mendelian disease genes in an
unbiased manner by sequencing the entire protein-coding sequence, known as the exome …
unbiased manner by sequencing the entire protein-coding sequence, known as the exome …
Synthesis and degradation pathways, functions, and pathology of ceramides and epidermal acylceramides
A Kihara - Progress in lipid research, 2016 - Elsevier
Ceramide (Cer) is a structural backbone of sphingolipids and is composed of a long-chain
base and a fatty acid. Existence of a variety of Cer species, which differ in chain-length …
base and a fatty acid. Existence of a variety of Cer species, which differ in chain-length …
[HTML][HTML] Metabolism of very long-chain fatty acids: genes and pathophysiology
T Sassa, A Kihara - Biomolecules & therapeutics, 2014 - ncbi.nlm.nih.gov
Fatty acids (FAs) are highly diverse in terms of carbon (C) chain-length and number of
double bonds. FAs with C> 20 are called very long-chain fatty acids (VLCFAs). VLCFAs are …
double bonds. FAs with C> 20 are called very long-chain fatty acids (VLCFAs). VLCFAs are …
Genetic map** and exome sequencing identify variants associated with five novel diseases
The Clinic for Special Children (CSC) has integrated biochemical and molecular methods
into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children …
into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children …
Unlocking Mendelian disease using exome sequencing
Unlocking Mendelian disease using exome sequencing | Genome Biology Skip to main
content SpringerLink Account Menu Find a journal Publish with us Track your research Search …
content SpringerLink Account Menu Find a journal Publish with us Track your research Search …