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Daniel Greene

Showing results (31-40 of 53) with videos related to

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Haematologica|April 18, 2020
Identification of a homozygous recessive variant in <i>PTGS1</i> resulting in a congenital aspirin-like defect in platelet functionMelissa V Chan, Melissa A Hayman, Suthesh Sivapalaratnam, et al.
Blood|January 9, 2017
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopeniaSuthesh Sivapalaratnam, Sarah K Westbury, Jonathan C Stephens, et al.
Nature Genetics|April 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
Blood|June 21, 2019
Germline mutations in the transcription factor IKZF5 cause thrombocytopeniaClaire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.
Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.
The Journal of Allergy and Clinical Immunology|February 26, 2018
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in EuropeansPaul Tuijnenburg, Hana Lango Allen, Siobhan O Burns, et al.
Human Mutation|September 29, 2019
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variantsLoredana Bury, Karyn Megy, Jonathan C Stephens, et al.
Blood|May 9, 2019
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disordersKate Downes, Karyn Megy, Daniel Duarte, et al.
Pageof 6

Showing results (31-40 of 53) with videos related to

Sort By:
Pageof 6
Haematologica|April 18, 2020
Identification of a homozygous recessive variant in <i>PTGS1</i> resulting in a congenital aspirin-like defect in platelet functionMelissa V Chan, Melissa A Hayman, Suthesh Sivapalaratnam, et al.
Blood|January 9, 2017
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopeniaSuthesh Sivapalaratnam, Sarah K Westbury, Jonathan C Stephens, et al.
Nature Genetics|April 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
Blood|June 21, 2019
Germline mutations in the transcription factor IKZF5 cause thrombocytopeniaClaire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
Nature Medicine|March 17, 2023
Genetic association analysis of 77,539 genomes reveals rare disease etiologiesDaniel Greene, , Daniela Pirri, et al.
Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.
The Journal of Allergy and Clinical Immunology|February 26, 2018
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in EuropeansPaul Tuijnenburg, Hana Lango Allen, Siobhan O Burns, et al.
Human Mutation|September 29, 2019
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variantsLoredana Bury, Karyn Megy, Jonathan C Stephens, et al.
Blood|May 9, 2019
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disordersKate Downes, Karyn Megy, Daniel Duarte, et al.
Pageof 6