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American Journal of Human Genetics
|
December 31, 2005
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)
Neil V Morgan, Shanaz Pasha, Colin A Johnson, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 9, 2013
STAT2 deficiency and susceptibility to viral illness in humans
Sophie Hambleton, Stephen Goodbourn, Dan F Young, et al.
Journal of Thrombosis and Haemostasis : JTH
|
January 6, 2015
Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders
V C Leo, N V Morgan, D Bem, et al.
Cancer Research
|
October 5, 2001
Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma
C Morrissey, A Martinez, M Zatyka, et al.
Thrombosis and Haemostasis
|
January 9, 2015
Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors
Matthew L Jones, Jane E Norman, Neil V Morgan, et al.
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.
Molecular Genetics and Metabolism
|
October 1, 2011
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease
E Meyer, M A Kurian, N V Morgan, 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.
Page
of 28
Search research articles
Search
Showing results (191-200 of 278) with videos related to
Sort By:
Page
of 28
American Journal of Human Genetics
|
December 31, 2005
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)
Neil V Morgan, Shanaz Pasha, Colin A Johnson, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 9, 2013
STAT2 deficiency and susceptibility to viral illness in humans
Sophie Hambleton, Stephen Goodbourn, Dan F Young, et al.
Journal of Thrombosis and Haemostasis : JTH
|
January 6, 2015
Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders
V C Leo, N V Morgan, D Bem, et al.
Cancer Research
|
October 5, 2001
Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinoma
C Morrissey, A Martinez, M Zatyka, et al.
Thrombosis and Haemostasis
|
January 9, 2015
Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors
Matthew L Jones, Jane E Norman, Neil V Morgan, et al.
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.
Molecular Genetics and Metabolism
|
October 1, 2011
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease
E Meyer, M A Kurian, N V Morgan, 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.
Page
of 28