1. A review of aromatic l‐amino acid decarboxylase (AADC) deficiency in Taiwan. Issue 2 (7th January 2019) Authors: Lee, Ni‐Chung; Chien, Yin‐Hsiu; Hwu, Wuh‐Liang Other Names: Chung Brian guestEditor.; Lai Poh‐San guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 2(2019) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Asymptomatic ASS1 carriers with high blood citrulline levels. Issue 9 (21st June 2022) Authors: Chen, Hui‐An; Hsu, Rai‐Hseng; Chang, Kai‐Ling; Huang, Yi‐Chen; Chiang, Yun‐Chen; Lee, Ni‐Chung; Hwu, Wuh‐Liang; Chiu, Pao‐Chin; Chien, Yin‐Hsiu Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 9(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. Issue 2 (14th December 2019) Authors: Lee, Chung‐Lin; Tan, Louis Tan Hock‐Cheong; Lin, Hsiang‐Yu; Hwu, Wuh‐Liang; Lee, Ni‐Chung; Chien, Yin‐Hsiu; Chuang, Chih‐Kuang; Wu, Mei‐Hwan; Wang, Jou‐Kou; Chu, Shao‐Yin; Lin, Ju‐Li; Lo, Fu‐Sung; Su, Pen‐Hua; Hsu, Chia‐Chi; Ko, Yu‐Yuan; Chen, Ming‐Ren; Chiu, Hui‐Ching; Lin, Shuan‐Pei Journal: American journal of medical genetics Issue: Volume 182:Issue 2(2020) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype–Phenotype Correlation. Issue 4 (20th March 2013) Authors: Chen, Yi‐Chen; Chien, Yin‐Hsiu; Chen, Pin‐Wen; Leung‐Sang Tang, Nelson; Chiu, Pao‐Chin; Hwu, Wuh‐Liang; Lee, Ni‐Chung Journal: Human mutation Issue: Volume 34:Issue 4(2013:Apr.) Page Start: 655 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort. Issue 6 (9th July 2020) Authors: Chen, Szu‐Ju; Lee, Bo‐Chin; Lee, Ni‐Chung; Chien, Yin‐Hsiu; Hwu, Wuh‐Liang; Lin, Chin‐Hsien Journal: American journal of medical genetics Issue: Volume 183:Issue 6(2020) Page Start: 352 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan. Issue 4 (31st January 2018) Authors: Tung, Yi‐Ching; Fann, Cathy S‐J; Chang, Chien‐Ching; Chu, Chen‐Chung; Yang, Wei‐Shiung; Hwu, Wuh‐Liang; Chen, Pei‐Lung; Tsai, Wen‐Yu Journal: Pediatric diabetes Issue: Volume 19:Issue 4(2018) Page Start: 699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De novo mutation and skewed X‐inactivation in girl with BCAP31‐related syndrome. Issue 10 (22nd July 2020) Authors: Kao, Hsiao‐Jung; Chiang, Hung‐Lun; Chen, Hsiao‐Huei; Fan, Pi‐Chuan; Tu, Yi‐Fang; Chou, Yen‐Yin; Hwu, Wuh‐Liang; Lin, Chien‐Ling; Kwok, Pui‐Yan; Lee, Ni‐Chung Journal: Human mutation Issue: Volume 41:Issue 10(2020) Page Start: 1775 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Diagnosing mucopolysaccharidosis IVA. Issue 2 (1st February 2013) Authors: Wood, Timothy C.; Harvey, Katie; Beck, Michael; Burin, Maira Graeff; Chien, Yin‐Hsiu; Church, Heather J.; D'Almeida, Vânia; van Diggelen, Otto P.; Fietz, Michael; Giugliani, Roberto; Harmatz, Paul; Hawley, Sara M.; Hwu, Wuh‐Liang; Ketteridge, David; Lukacs, Zoltan; Miller, Nicole; Pasquali, Marzi... Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 2(2013) Page Start: 293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan. Issue 4 (3rd November 2010) Authors: Lin, Hsiang‐Yu; Chen, Ming‐Ren; Chuang, Chih‐Kuang; Chen, Chih‐Ping; Lin, Dar‐Shong; Chien, Yin‐Hsiu; Ke, Yu‐Yuan; Tsai, Fuu‐Jen; Pan, Hui‐Ping; Lin, Shio‐Jean; Hwu, Wuh‐Liang; Niu, Dau‐Ming; Lee, Ni‐Chung; Lin, Shuan‐Pei Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 4(2013) Page Start: 705 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes. Issue 10 (14th August 2020) Authors: Kuo, Chieh‐Wen; Hwu, Wuh‐Liang; Chien, Yin‐Hsiu; Hsu, Ching; Hung, Miao‐Zi; Lin, I‐Lin; Lai, Feipei; Lee, Ni‐Chung Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 10(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗