Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

Fragile X-Associated Tremor/Ataxia Syndrome

(2016) Maureen A. Leehey   JOURNAL OF INVESTIGATIVE MEDICINE

Carrier frequency of the R778L, A874V, and N1270S mutations in theATP7Bgene in a Korean population

(2009)   CLINICAL GENETICS

Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria

(2009) Yong-Wha Lee et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Population programs for the detection of couples at risk for severe monogenic genetic diseases

(2009) Joël Zlotogora   HUMAN GENETICS

TSHRMutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study

(2009) Satoshi Narumi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

(2009) John DePaolo et al.   MOVEMENT DISORDERS

Congenital hypothyroidism

(2008) Vandana Jain et al.   INDIAN JOURNAL OF PEDIATRICS

Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population

(2008) Sung-Hee Han et al.   JOURNAL OF HUMAN GENETICS

Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?

(2008) Fuad Fares et al.   PRENATAL DIAGNOSIS