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T Shieh

Showing results (61-70 of 85) with videos related to

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Journal of Neurosurgery|July 2, 2021
Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotypeSen Gao, Jeffrey Nelson, Shantel Weinsheimer, et al.
HGG Advances|September 3, 2023
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathyJoseph T Shieh, Jesus A Tintos-Hernandez, Chaya N Murali, et al.
Medrxiv : the Preprint Server for Health Sciences|February 13, 2023
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene <i>FTH1</i> Cause a Novel Pediatric NeuroferritinopathyJoseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, et al.
NPJ Genomic Medicine|October 13, 2021
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disordersJoseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, et al.
NPJ Genomic Medicine|September 24, 2021
Application of full-genome analysis to diagnose rare monogenic disordersJoseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, et al.
The European Respiratory Journal|June 2, 2019
Phenotype characterisation of <i>TBX4</i> mutation and deletion carriers with neonatal and paediatric pulmonary hypertensionCsaba Galambos, Mary P Mullen, Joseph T Shieh, et al.
The American Journal of Cardiology|October 2, 2013
Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry)Michelle L Bayer, Peter C Frommelt, Francine Blei, et al.
American Journal of Medical Genetics. Part A|March 29, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature reviewAkash Kumar, Diane B Zastrow, Elijah J Kravets, et al.
Nature Medicine|August 12, 2020
The role of exome sequencing in newborn screening for inborn errors of metabolismAashish N Adhikari, Renata C Gallagher, Yaqiong Wang, et al.
JCI Insight|January 26, 2018
Mutations in Hnrnpa1 cause congenital heart defectsZhe Yu, Paul Lf Tang, Jing Wang, et al.
Pageof 9

Showing results (61-70 of 85) with videos related to

Sort By:
Pageof 9
Journal of Neurosurgery|July 2, 2021
Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotypeSen Gao, Jeffrey Nelson, Shantel Weinsheimer, et al.
HGG Advances|September 3, 2023
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathyJoseph T Shieh, Jesus A Tintos-Hernandez, Chaya N Murali, et al.
Medrxiv : the Preprint Server for Health Sciences|February 13, 2023
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene <i>FTH1</i> Cause a Novel Pediatric NeuroferritinopathyJoseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, et al.
NPJ Genomic Medicine|October 13, 2021
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disordersJoseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, et al.
NPJ Genomic Medicine|September 24, 2021
Application of full-genome analysis to diagnose rare monogenic disordersJoseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, et al.
The European Respiratory Journal|June 2, 2019
Phenotype characterisation of <i>TBX4</i> mutation and deletion carriers with neonatal and paediatric pulmonary hypertensionCsaba Galambos, Mary P Mullen, Joseph T Shieh, et al.
The American Journal of Cardiology|October 2, 2013
Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry)Michelle L Bayer, Peter C Frommelt, Francine Blei, et al.
American Journal of Medical Genetics. Part A|March 29, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature reviewAkash Kumar, Diane B Zastrow, Elijah J Kravets, et al.
Nature Medicine|August 12, 2020
The role of exome sequencing in newborn screening for inborn errors of metabolismAashish N Adhikari, Renata C Gallagher, Yaqiong Wang, et al.
JCI Insight|January 26, 2018
Mutations in Hnrnpa1 cause congenital heart defectsZhe Yu, Paul Lf Tang, Jing Wang, et al.
Pageof 9