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Showing results (901-910 of 925) with videos related to

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Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
JACC. Clinical Electrophysiology|November 20, 2020
Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT SyndromeJeremy P Moore, Roberto G Gallotti, Kevin M Shannon, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
Cardiology in the Young|August 2, 2021
2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patientsMaully J Shah, Michael J Silka, Jennifer N Avari Silva, et al.
Indian Pacing and Electrophysiology Journal|August 1, 2021
2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patients, Maully J Shah, Michael J Silka, et al.
Indian Pacing and Electrophysiology Journal|August 1, 2021
2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patients: Executive summary, Michael J Silka, Maully J Shah, et al.
Heart Rhythm|August 7, 2021
2021 PACES Expert Consensus Statement on the Indications and Management of Cardiovascular Implantable Electronic Devices in Pediatric Patients, Maully J Shah, Michael J Silka, et al.
European Journal of Human Genetics : EJHG|June 10, 2010
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genesAimée D C Paulussen, Constance T Schrander-Stumpel, Demis C J Tserpelis, et al.
Nature Genetics|April 24, 2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al.
JACC. Clinical Electrophysiology|November 19, 2021
2021 PACES Expert Consensus Statement on the Indications and Management of Cardiovascular Implantable Electronic Devices in Pediatric Patients: Developed in collaboration with and endorsed by the Heart Rhythm Society (HRS), the American College of Cardiology (ACC), the American Heart Association (AHA), and the Association for European Paediatric and Congenital Cardiology (AEPC) Endorsed by the Asia Pacific Heart Rhythm Society (APHRS), the Indian Heart Rhythm Society (IHRS), and the Latin American Heart Rhythm Society (LAHRS), Maully J Shah, Michael J Silka, et al.
Pageof 93

Showing results (901-910 of 925) with videos related to

Sort By:
Pageof 93
Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
JACC. Clinical Electrophysiology|November 20, 2020
Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT SyndromeJeremy P Moore, Roberto G Gallotti, Kevin M Shannon, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
Cardiology in the Young|August 2, 2021
2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patientsMaully J Shah, Michael J Silka, Jennifer N Avari Silva, et al.
Indian Pacing and Electrophysiology Journal|August 1, 2021
2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patients, Maully J Shah, Michael J Silka, et al.
Indian Pacing and Electrophysiology Journal|August 1, 2021
2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patients: Executive summary, Michael J Silka, Maully J Shah, et al.
Heart Rhythm|August 7, 2021
2021 PACES Expert Consensus Statement on the Indications and Management of Cardiovascular Implantable Electronic Devices in Pediatric Patients, Maully J Shah, Michael J Silka, et al.
European Journal of Human Genetics : EJHG|June 10, 2010
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genesAimée D C Paulussen, Constance T Schrander-Stumpel, Demis C J Tserpelis, et al.
Nature Genetics|April 24, 2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al.
JACC. Clinical Electrophysiology|November 19, 2021
2021 PACES Expert Consensus Statement on the Indications and Management of Cardiovascular Implantable Electronic Devices in Pediatric Patients: Developed in collaboration with and endorsed by the Heart Rhythm Society (HRS), the American College of Cardiology (ACC), the American Heart Association (AHA), and the Association for European Paediatric and Congenital Cardiology (AEPC) Endorsed by the Asia Pacific Heart Rhythm Society (APHRS), the Indian Heart Rhythm Society (IHRS), and the Latin American Heart Rhythm Society (LAHRS), Maully J Shah, Michael J Silka, et al.
Pageof 93