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

Ruen Yao

Showing results (11-20 of 68) with videos related to

Pageof 7
Sort By:
Gene|July 9, 2020
Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1Niu Li, Yufei Xu, Tingting Yu, et al.
BMC Medical Genomics|December 10, 2020
Psychomotor development and attention problems caused by a splicing variant of CNKSR2Yi Zhang, Tingting Yu, Niu Li, et al.
BMC Pediatrics|July 13, 2019
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case reportXin Li, Qing Cheng, Yu Ding, et al.
Journal of Personalized Medicine|January 22, 2024
Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare <i>ABCC6</i> MutationRuen Yao, Fan Yang, Qianwen Zhang, et al.
Journal of Thrombosis and Haemostasis : JTH|August 21, 2023
SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombastheniaJiasheng Zhang, Jie Tang, Guoqiang Li, et al.
Frontiers in Endocrinology|September 20, 2021
Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese CohortWei Long, Fang Guo, Ruen Yao, et al.
International Journal of Genomics|July 3, 2026
Genotype and Cardiac Rhabdomyoma Phenotype Analyses in Tuberous Sclerosis Complex DiseasesXiang Chen, Ruen Yao, Wangtao Sheng, et al.
British Journal of Haematology|November 29, 2024
Elucidating loss-of-function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohortJiasheng Zhang, Jin Sun, Wan Huai, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 7, 2026
A follow-up cohort study on secondary findings in cancer predisposition genes from 20,205 Chinese individualsJiaqi Xu, Jin Sun, Jie Tang, et al.
Frontiers in Pediatrics|September 19, 2022
Neurodevelopmental disorders and anti-epileptic treatment in a patient with a <i>SATB1</i> mutation: A case reportYing Yu, Cuiyun Li, Wei Li, et al.
Pageof 7

Showing results (11-20 of 68) with videos related to

Sort By:
Pageof 7
Gene|July 9, 2020
Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1Niu Li, Yufei Xu, Tingting Yu, et al.
BMC Medical Genomics|December 10, 2020
Psychomotor development and attention problems caused by a splicing variant of CNKSR2Yi Zhang, Tingting Yu, Niu Li, et al.
BMC Pediatrics|July 13, 2019
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case reportXin Li, Qing Cheng, Yu Ding, et al.
Journal of Personalized Medicine|January 22, 2024
Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare <i>ABCC6</i> MutationRuen Yao, Fan Yang, Qianwen Zhang, et al.
Journal of Thrombosis and Haemostasis : JTH|August 21, 2023
SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombastheniaJiasheng Zhang, Jie Tang, Guoqiang Li, et al.
Frontiers in Endocrinology|September 20, 2021
Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese CohortWei Long, Fang Guo, Ruen Yao, et al.
International Journal of Genomics|July 3, 2026
Genotype and Cardiac Rhabdomyoma Phenotype Analyses in Tuberous Sclerosis Complex DiseasesXiang Chen, Ruen Yao, Wangtao Sheng, et al.
British Journal of Haematology|November 29, 2024
Elucidating loss-of-function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohortJiasheng Zhang, Jin Sun, Wan Huai, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 7, 2026
A follow-up cohort study on secondary findings in cancer predisposition genes from 20,205 Chinese individualsJiaqi Xu, Jin Sun, Jie Tang, et al.
Frontiers in Pediatrics|September 19, 2022
Neurodevelopmental disorders and anti-epileptic treatment in a patient with a <i>SATB1</i> mutation: A case reportYing Yu, Cuiyun Li, Wei Li, et al.
Pageof 7