6

Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia

Année:
2000
Langue:
english
Fichier:
PDF, 9 KB
english, 2000
9

Wilson disease—Keeping the bar for diagnosis raised

Année:
2005
Langue:
english
Fichier:
PDF, 47 KB
english, 2005
20

Connexin26 Mutations Associated With Nonsyndromic Hearing Loss

Année:
2000
Langue:
english
Fichier:
PDF, 636 KB
english, 2000
22

Acanthamoeba keratitis related to cosmetic contact lenses

Année:
2007
Langue:
english
Fichier:
PDF, 174 KB
english, 2007
43

Targeted next-generation sequencing expands the spectrum of mitochondrial disorders

Année:
2012
Langue:
english
Fichier:
PDF, 77 KB
english, 2012
47

Population screening for Wilson's disease

Année:
2014
Langue:
english
Fichier:
PDF, 92 KB
english, 2014