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Journal of Neurology|May 13, 2010
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypesYi-Chung Lee, Kon-Ping Lin, Ming-Hong Chang, et al.
Molecular Genetics and Metabolism Reports|September 1, 2022
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in TaiwanHui-An Chen, Rai-Hseng Hsu, Pin-Wen Chen, et al.
Journal of the Chinese Medical Association : JCMA|August 9, 2024
TBK1 p.Y153Qfs*9 variant may be associated with young-onset, rapidly progressive amyotrophic lateral sclerosis through a haploinsufficiency mechanismShih-Yu Fang, Pei-Chien Tsai, Kang-Yang Jih, et al.
Journal of the Neurological Sciences|April 4, 2006
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in ChineseYi-Chung Lee, An-Hang Yang, Hsiu-Chih Liu, et al.
Protein and Peptide Letters|May 17, 2012
Characterization of glycine substitution mutations within the putative NAD+-binding site of Bacillus licheniformis aldehyde dehydrogenaseYen-Chung Lee, Den-Tai Lin, Hsiang-Ling Chen, et al.
Molecular Genetics and Metabolism|January 19, 2010
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot programPaul Labrousse, Yin-Hsiu Chien, Robert J Pomponio, et al.
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