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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 disease
Neil 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 bleeding
Lorena 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 nephron
Stefano 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 syndrome
Irene 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 Finger
José M Bastida, Stefano Malvestiti, Doris Boeckelmann, et al.
Human Genetics
|
October 18, 2002
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
Neil 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 conditions
Magdolna Nagy, Gina Perrella, Amanda Dalby, et al.
Journal of Medical Genetics
|
December 15, 2011
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes
Julie 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 thrombocytopenia
Ben Johnson, Rachel Doak, David Allsup, et al.
Nucleic Acids Research
|
June 4, 2025
Structural and functional characterization of human SLFN14
Meng Luo, Xudong Jia, Zi-Wen Wang, et al.
Page
of 9
Search research articles
Search
Showing results (41-50 of 88) with videos related to
Sort By:
Page
of 9
Orphanet Journal of Rare Diseases
|
May 18, 2013
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease
Neil 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 bleeding
Lorena 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 nephron
Stefano 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 syndrome
Irene 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 Finger
José M Bastida, Stefano Malvestiti, Doris Boeckelmann, et al.
Human Genetics
|
October 18, 2002
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
Neil 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 conditions
Magdolna Nagy, Gina Perrella, Amanda Dalby, et al.
Journal of Medical Genetics
|
December 15, 2011
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes
Julie 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 thrombocytopenia
Ben Johnson, Rachel Doak, David Allsup, et al.
Nucleic Acids Research
|
June 4, 2025
Structural and functional characterization of human SLFN14
Meng Luo, Xudong Jia, Zi-Wen Wang, et al.
Page
of 9