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Fan Xia

Showing results (1041-1050 of 1,084) with videos related to

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Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, et al.
Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.
Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases|January 9, 2021
Patient pathway analysis of tuberculosis diagnostic delay: a multicentre retrospective cohort study in ChinaLu Zhang, Tao-Ping Weng, Hong-Yu Wang, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|March 24, 2026
RETREG1-Mediated Reticulophagy is Essential for Dendritic Cell Maturation and Function in SepsisRen-Qi Yao, Chao Ren, Li-Yu Zheng, et al.
Cerebellum (London, England)|February 26, 2022
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar DevelopmentAndrea Accogli, Shenzhao Lu, Ilaria Musante, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.
JAMA|October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencingYaping Yang, Donna M Muzny, Fan Xia, et al.
Genome Medicine|August 16, 2017
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disordersBret L Bostwick, Scott McLean, Jennifer E Posey, et al.
Alcohol, Clinical & Experimental Research|June 25, 2026
Exploring Phosphatidylethanol Cutoffs for Self-Reported Unhealthy Alcohol Use: An International Multi-Site AnalysisPamela M Murnane, Fan Xia, Majid Afshar, et al.
Pageof 109

Showing results (1041-1050 of 1,084) with videos related to

Sort By:
Pageof 109
Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, et al.
Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.
Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases|January 9, 2021
Patient pathway analysis of tuberculosis diagnostic delay: a multicentre retrospective cohort study in ChinaLu Zhang, Tao-Ping Weng, Hong-Yu Wang, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|March 24, 2026
RETREG1-Mediated Reticulophagy is Essential for Dendritic Cell Maturation and Function in SepsisRen-Qi Yao, Chao Ren, Li-Yu Zheng, et al.
Cerebellum (London, England)|February 26, 2022
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar DevelopmentAndrea Accogli, Shenzhao Lu, Ilaria Musante, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.
JAMA|October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencingYaping Yang, Donna M Muzny, Fan Xia, et al.
Genome Medicine|August 16, 2017
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disordersBret L Bostwick, Scott McLean, Jennifer E Posey, et al.
Alcohol, Clinical & Experimental Research|June 25, 2026
Exploring Phosphatidylethanol Cutoffs for Self-Reported Unhealthy Alcohol Use: An International Multi-Site AnalysisPamela M Murnane, Fan Xia, Majid Afshar, et al.
Pageof 109