Ethnically unique disease burden and limitations of current expanded carrier screening panels.

Autor: Chen, Chih‐Ling, Lee, Ni‐Chung, Chien, Yin‐Hsiu, Hwu, Wuh‐Liang, Hung, Miao‐Zi, Lin, Yi‐Lin, Lin, Shin‐Yu, Lee, Chien‐Nan

Publikováno v: International Journal of Gynecology & Obstetrics; Mar2024, Vol. 164 Issue 3, p918-924, 7p

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P144: Ethnically-unique disease burden and limitations of current expanded carrier screening panels

Autor: Chen, Chih-Ling, Lee, Ni-Chung, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Hung, Miao-Zi, Lin, Yi-Lin, Lin, Shin-Yu, Lee, Chien-Nan

Publikováno v: In Genetics in Medicine Open 2023 1(1) Supplement

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum

Autor: Chung, Chi-Ting, Lee, Ni-Chung, Fan, Sung-Pin, Hung, Miao-Zi, Lin, Yen-Heng, Chen, Chih-Hao, Jao, Tun

Publikováno v: In Epilepsy & Behavior Reports 2023 21

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum.

Autor: Chung CT; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Neurology, National Taiwan University, Taipei, Taiwan., Lee NC; Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Department of Medical Genetics, National Taiwan University, Taipei, Taiwan., Fan SP; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Neurology, National Taiwan University, Taipei, Taiwan., Hung MZ; Department of Medical Genetics, National Taiwan University, Taipei, Taiwan., Lin YH; Department of Medical Imaging, National Taiwan University, Taipei, Taiwan., Chen CH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Neurology, National Taiwan University, Taipei, Taiwan., Jao T; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.; Department of Neurology, National Taiwan University, Taipei, Taiwan.

Publikováno v: Epilepsy & behavior reports [Epilepsy Behav Rep] 2022 Dec 28; Vol. 21, pp. 100580. Date of Electronic Publication: 2022 Dec 28 (Print Publication: 2023).