Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro)

[Geminivirus replication: rolling circle mechanism in plants].

Virologie (Montrouge, France)·2022

[Nanoviruses, small plant viruses: similarities and differences with geminiviruses].

Virologie (Montrouge, France)·2021

Probabilistic tsunami forecasting for early warning.

Nature communications·2021

Plasma levels of protein C pathway proteins and brain magnetic resonance imaging volumes in multiple sclerosis.

European journal of neurology·2019

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.

Journal of thrombosis and haemostasis : JTH·2018

Hemostasis biomarkers in multiple sclerosis.

European journal of neurology·2018

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

Human molecular genetics·2026

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Human molecular genetics·2026

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Human molecular genetics·2026

Three novel RHD variant alleles were identified through routine molecular screening of serologically RH1 negative first-time blood donors.

Transfusion·2026

Association between hematuria remission at 6 months and subsequent kidney outcomes in IgA nephropathy.

Journal of nephrology·2026

Thrombophilias associated with patent foramen ovale (PFO) in patients after an episode of cryptogenic stroke.

Future cardiology·2026

Impact of HLA-B leader matching on clinical outcomes of haploidentical hematopoietic stem cell transplantation in adult patients with acute leukemia, a retrospective cohort study.

Annals of medicine and surgery (2012)·2026

Tgfbr3 is required for the long-term maintenance of self-renewal potential in murine hematopoietic stem cells.

Blood science (Baltimore, Md.)·2026

Sickle red blood cell/Siglec-9 interactions contribute to neutrophil activation in SCD and are associated with survival.

Blood. Red cells & iron·2026

Related Experiment Videos

Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro)

Related Concept Videos

[Geminivirus replication: rolling circle mechanism in plants].

[Nanoviruses, small plant viruses: similarities and differences with geminiviruses].

Probabilistic tsunami forecasting for early warning.

Plasma levels of protein C pathway proteins and brain magnetic resonance imaging volumes in multiple sclerosis.

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.

Hemostasis biomarkers in multiple sclerosis.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Three novel RHD variant alleles were identified through routine molecular screening of serologically RH1 negative first-time blood donors.

Association between hematuria remission at 6 months and subsequent kidney outcomes in IgA nephropathy.

Thrombophilias associated with patent foramen ovale (PFO) in patients after an episode of cryptogenic stroke.

Impact of HLA-B leader matching on clinical outcomes of haploidentical hematopoietic stem cell transplantation in adult patients with acute leukemia, a retrospective cohort study.

Tgfbr3 is required for the long-term maintenance of self-renewal potential in murine hematopoietic stem cells.

Sickle red blood cell/Siglec-9 interactions contribute to neutrophil activation in SCD and are associated with survival.

Related Experiment Videos

Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro)

Related Concept Videos

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