Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Shuan-Pei Lin

Showing results (111-120 of 281) with videos related to

Pageof 29
Sort By:
Taiwanese Journal of Obstetrics & Gynecology|January 26, 2021
Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphismChih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
International Journal of Radiation Biology|June 25, 2002
Evaluation of the frequencies of chromosomal aberrations in a population exposed to prolonged low dose-rate 60Co gamma-irradiationWanhua A Hsieh, Chyiyao Ni, Jeng-Jong Hwang, et al.
Gene|November 28, 2013
Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardationChih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi|October 21, 2004
DiGeorge syndrome with truncus arteriosus: report of one casePei-Hsuan Liang, Ming-Ren Chen, Shyh-Dar Shyur, et al.
Children (Basel, Switzerland)|November 27, 2021
Wiedemann-Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from TaiwanChung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
BMC Medical Genetics|May 28, 2011
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 geneChia-Cheng Hung, Shin-Yu Lin, Chien-Nan Lee, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis IIIHsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, et al.
Diagnostics (Basel, Switzerland)|February 26, 2025
Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese CaseChung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi|October 16, 2023
Phenotype, genotype, and clinical outcome of Taiwanese with congenital nephrotic syndromeMin-Hua Tseng, Shih-Hua Lin, Wen-Lang Fan, et al.
Diagnostics (Basel, Switzerland)|October 27, 2022
De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature ReviewYu-Min Syu, Juine-Yih Ma, Tzu-Hsuen Ou, et al.
Pageof 29

Showing results (111-120 of 281) with videos related to

Sort By:
Pageof 29
Taiwanese Journal of Obstetrics & Gynecology|January 26, 2021
Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphismChih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
International Journal of Radiation Biology|June 25, 2002
Evaluation of the frequencies of chromosomal aberrations in a population exposed to prolonged low dose-rate 60Co gamma-irradiationWanhua A Hsieh, Chyiyao Ni, Jeng-Jong Hwang, et al.
Gene|November 28, 2013
Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardationChih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi|October 21, 2004
DiGeorge syndrome with truncus arteriosus: report of one casePei-Hsuan Liang, Ming-Ren Chen, Shyh-Dar Shyur, et al.
Children (Basel, Switzerland)|November 27, 2021
Wiedemann-Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from TaiwanChung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
BMC Medical Genetics|May 28, 2011
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 geneChia-Cheng Hung, Shin-Yu Lin, Chien-Nan Lee, et al.
Orphanet Journal of Rare Diseases|June 15, 2019
Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis IIIHsiang-Yu Lin, Ming-Ren Chen, Shan-Miao Lin, et al.
Diagnostics (Basel, Switzerland)|February 26, 2025
Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese CaseChung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi|October 16, 2023
Phenotype, genotype, and clinical outcome of Taiwanese with congenital nephrotic syndromeMin-Hua Tseng, Shih-Hua Lin, Wen-Lang Fan, et al.
Diagnostics (Basel, Switzerland)|October 27, 2022
De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature ReviewYu-Min Syu, Juine-Yih Ma, Tzu-Hsuen Ou, et al.
Pageof 29