1
Similar mapping and modelling methods could be used for other inherited disorders.
2
The couple's eldest daughter Taya did not suffer from the inherited disorder.
3
The inherited disorders of hemoglobin synthesis constitute the most common monogenic diseases worldwide.
4
The inherited disorder limits the blood's ability to carry oxygen throughout the body.
5
Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system.
6
Here, we resolve the genetic basis of this recessively inherited disorder.
7
The inherited disorder causes cumulative severe damage to the lungs.
8
Children with inherited disorders of LDL metabolism may require the addition of lipid-lowering therapy.
9
Advances in next-generation sequencing (NGS) promise to facilitate diagnosis of inherited disorders.
10
Deficiencies in NER are associated with the extremely skin cancer-prone inherited disorder xeroderma pigmentosum.
11
Dominantly inherited disorders are not typically considered to be therapeutic candidates for gene augmentation.
12
Cystic fibrosis (CF) is an inherited disorder with a devastating prognosis.
13
We describe three families with a dominantly inherited disorder.
14
Wilson's disease is an inherited disorder of copper accumulation.
15
Cystic fibrosis (CF) is a common inherited disorder affecting a variety of epithelial tissues.
16
The Kohlschütter syndrome is a very uncommon inherited disorder characterized by epilepsy, dementia, and yellow teeth.