Tardif, Jessica

Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean. [electronic resource] - Prenatal diagnosis 01 2018 - 67-74 p. digital

Publication Type: Journal Article

1097-0223

10.1002/pd.5055 doi


Adult
Agenesis of Corpus Callosum--diagnosis
Cytochrome-c Oxidase Deficiency--diagnosis
Female
Founder Effect
Genetic Carrier Screening
Heterozygote
Humans
Leigh Disease--diagnosis
Male
Muscle Spasticity--diagnosis
Peripheral Nervous System Diseases--diagnosis
Pilot Projects
Spinocerebellar Ataxias--congenital
Tyrosinemias--diagnosis
Young Adult