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1 . Academic Journal
Syndromic ciliopathy: a taiwanese single-center study
저자
by
Yu-Wen Pan
;
Tsung-Ying Ou
;
Yen-Yin Chou
;
Pao-Lin Kuo
;
Hui-Pin Hsiao
, et al.
소스
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)
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7 . Academic Journal
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients
저자
by
Wei-Ting Tu
;
Ping-Chen Hou
;
Peng-Chieh Chen
;
Wan-Rung Chen
;
Hsin-Yu Huang
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients
저자
by
Meng-Che Tsai
;
Yun-Han Weng
;
Yu-Fang Lin
;
Yi-Chieh Wang
;
Hui-Wen Yu
, et al.
소스
Biomedicines, Vol 11, Iss 2, p 242 (2023)
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7 . Academic Journal
A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing
저자
by
Cheng-Yu Liao
;
Hui-Wen Yu
;
Chao-Neng Cheng
;
Jiann-Shiuh Chen
;
Ching-Wei Lin
, et al.
소스
Journal of Microbiology, Immunology and Infection, Vol 53, Iss 1, Pp 99-105 (2020)
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7 . Academic Journal
NOX2-Deficient Neutrophils Facilitate Joint Inflammation Through Higher Pro-Inflammatory and Weakened Immune Checkpoint Activities
저자
by
Yi-Chu Liao
;
Szu-Yu Wu
;
Ya-Fang Huang
;
Pei-Chi Lo
;
Tzu-Yi Chan
, et al.
소스
Frontiers in Immunology, Vol 12 (2021)
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7 . Academic Journal
Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations
저자
by
Ping-Chen Hou
;
Ken Natsuga
;
Wei-Ting Tu
;
Hsin-Yu Huang
;
Brandon Chen
, et al.
소스
Acta Dermato-Venereologica, Vol 101, Iss 8, p adv00522 (2021)
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7 . Academic Journal
New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies
저자
by
Meng-Che Tsai
;
Yen-Yin Chou
;
Chia-Yi Li
;
Yi-Chieh Wang
;
Hui-Wen Yu
, et al.
소스
Frontiers in Genetics, Vol 12 (2021)
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7 . Academic Journal
Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex
저자
by
Wei-Ting Tu
;
Peng-Chieh Chen
;
Ping-Chen Hou
;
Hsin-Yu Huang
;
Jing-Yu Wang
, et al.
소스
Acta Dermato-Venereologica, Vol 100, Iss 15, p adv00242 (2020)
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7 . Academic Journal
Probiotics-Containing Yogurt Ingestion and H. pylori Eradication Can Restore Fecal Faecalibacterium prausnitzii Dysbiosis in H. pylori-Infected Children
저자
by
Yao-Jong Yang
;
Peng-Chieh Chen
;
Fu-Ping Lai
;
Pei-Jane Tsai
;
Bor-Shyang Sheu
.
소스
Biomedicines, Vol 8, Iss 6, p 146 (2020)
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7 . Academic Journal
Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome
저자
by
Meng-Che Tsai
;
Hui-Wen Yu
;
Tsunglin Liu
;
Yen-Yin Chou
;
Yuan-Yow Chiou
, et al.
소스
Frontiers in Genetics, Vol 9 (2018)
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