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Neil V Morgan

Showing results (41-50 of 88) with videos related to

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Orphanet Journal of Rare Diseases|May 18, 2013
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver diseaseNeil V Morgan, Jane L Hartley, Kenneth D R Setchell, et al.
Journal of Thrombosis and Haemostasis : JTH|October 25, 2025
A novel homozygous splice-site variant in VPS33B identified as a cause of bleedingLorena Díaz-Ajenjo, Ana Marín-Quílez, Ana Lama-Villanueva, et al.
Cancer Cell|July 19, 2002
HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephronStefano J Mandriota, Kevin J Turner, David R Davies, et al.
American Journal of Human Genetics|March 15, 2006
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndromeIrene A Aligianis, Neil V Morgan, Marina Mione, et al.
Cells|October 27, 2022
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc FingerJosé M Bastida, Stefano Malvestiti, Doris Boeckelmann, et al.
Human Genetics|October 18, 2002
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24Neil V Morgan, Paul Gissen, Saghira Malik Sharif, et al.
Blood Advances|July 1, 2020
Flow studies on human GPVI-deficient blood under coagulating and noncoagulating conditionsMagdolna Nagy, Gina Perrella, Amanda Dalby, et al.
Journal of Medical Genetics|December 15, 2011
CHRNG genotype-phenotype correlations in the multiple pterygium syndromesJulie Vogt, Neil V Morgan, Pauline Rehal, et al.
Research and Practice in Thrombosis and Haemostasis|October 24, 2018
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopeniaBen Johnson, Rachel Doak, David Allsup, et al.
Nucleic Acids Research|June 4, 2025
Structural and functional characterization of human SLFN14Meng Luo, Xudong Jia, Zi-Wen Wang, et al.
Pageof 9

Showing results (41-50 of 88) with videos related to

Sort By:
Pageof 9
Orphanet Journal of Rare Diseases|May 18, 2013
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver diseaseNeil V Morgan, Jane L Hartley, Kenneth D R Setchell, et al.
Journal of Thrombosis and Haemostasis : JTH|October 25, 2025
A novel homozygous splice-site variant in VPS33B identified as a cause of bleedingLorena Díaz-Ajenjo, Ana Marín-Quílez, Ana Lama-Villanueva, et al.
Cancer Cell|July 19, 2002
HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephronStefano J Mandriota, Kevin J Turner, David R Davies, et al.
American Journal of Human Genetics|March 15, 2006
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndromeIrene A Aligianis, Neil V Morgan, Marina Mione, et al.
Cells|October 27, 2022
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc FingerJosé M Bastida, Stefano Malvestiti, Doris Boeckelmann, et al.
Human Genetics|October 18, 2002
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24Neil V Morgan, Paul Gissen, Saghira Malik Sharif, et al.
Blood Advances|July 1, 2020
Flow studies on human GPVI-deficient blood under coagulating and noncoagulating conditionsMagdolna Nagy, Gina Perrella, Amanda Dalby, et al.
Journal of Medical Genetics|December 15, 2011
CHRNG genotype-phenotype correlations in the multiple pterygium syndromesJulie Vogt, Neil V Morgan, Pauline Rehal, et al.
Research and Practice in Thrombosis and Haemostasis|October 24, 2018
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopeniaBen Johnson, Rachel Doak, David Allsup, et al.
Nucleic Acids Research|June 4, 2025
Structural and functional characterization of human SLFN14Meng Luo, Xudong Jia, Zi-Wen Wang, et al.
Pageof 9