Molecular genetics of coagulation factor VIII gene and haemophilia A

Chromatin three-dimensional interactions mediate genetic effects on gene expression.

Science (New York, N.Y.)·2019

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Neuropediatrics·2017

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.

Translational psychiatry·2017

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Human genomics·2016

Guidelines for investigating causality of sequence variants in human disease.

Nature·2014

Pathogenic variants in non-protein-coding sequences.

Clinical genetics·2013

Sensory and Clinical Characterization of Acute and Chronic Pain in Hemophilia: Identification of Distinct Pain Phenotypes.

Haemophilia : the official journal of the World Federation of Hemophilia·2026

Living With Factor VII Deficiency-A Mixed Methods Study.

Haemophilia : the official journal of the World Federation of Hemophilia·2026

Patient Preferences for the Treatment of Haemophilia A and B in France.

Haemophilia : the official journal of the World Federation of Hemophilia·2026

Occupational Therapy in Haemophilia Care: Perceived Role, Barriers and Expectations Among People With Haemophilia, Family Caregivers and Occupational Therapists.

Haemophilia : the official journal of the World Federation of Hemophilia·2026

Plasma-Derived Factor VIIa/Factor X Improves Thrombin Generation Potential in a Plasma Model of Haemophilia A Supplemented With Direct Oral Anticoagulants.

Haemophilia : the official journal of the World Federation of Hemophilia·2026

Risk of Postpartum Hemorrhage in Women With Von Willebrand Disease: A Real-World Data Analysis.

Haemophilia : the official journal of the World Federation of Hemophilia·2026

Experimental characterization of blood rheology and development of a computational rheological Index during progressive hemorrhagic shock.

Clinical hemorheology and microcirculation·2026

Atypical hemolytic uremic syndrome in kidney transplantation.

Journal of nephrology·2026

Late diagnosis of SLC34A3-related hereditary hypophosphatemic osteomalacia following a low-energy proximal humeral 4-part fracture.

JBMR plus·2026

The Association of the Neutrophil-to-Lymphocyte Ratio and the D-dimer-to-Albumin Ratio with Deep Vein Thrombosis in Patients with Spontaneous Intracerebral Hemorrhage.

International journal of general medicine·2026

Trends and forecasting of reported hepatitis B and hepatitis C incidence in Hainan Province, China, 2005-2020.

Frontiers in epidemiology·2026

Precision-guided therapy in dialysis-dependent classic hairy cell leukemia: a case report.

Frontiers in oncology·2026

Related Experiment Videos

Molecular genetics of coagulation factor VIII gene and haemophilia A

Related Concept Videos

Chromatin three-dimensional interactions mediate genetic effects on gene expression.

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Guidelines for investigating causality of sequence variants in human disease.

Pathogenic variants in non-protein-coding sequences.

Sensory and Clinical Characterization of Acute and Chronic Pain in Hemophilia: Identification of Distinct Pain Phenotypes.

Living With Factor VII Deficiency-A Mixed Methods Study.

Patient Preferences for the Treatment of Haemophilia A and B in France.

Occupational Therapy in Haemophilia Care: Perceived Role, Barriers and Expectations Among People With Haemophilia, Family Caregivers and Occupational Therapists.

Plasma-Derived Factor VIIa/Factor X Improves Thrombin Generation Potential in a Plasma Model of Haemophilia A Supplemented With Direct Oral Anticoagulants.

Risk of Postpartum Hemorrhage in Women With Von Willebrand Disease: A Real-World Data Analysis.

Experimental characterization of blood rheology and development of a computational rheological Index during progressive hemorrhagic shock.

Atypical hemolytic uremic syndrome in kidney transplantation.

Late diagnosis of SLC34A3-related hereditary hypophosphatemic osteomalacia following a low-energy proximal humeral 4-part fracture.

The Association of the Neutrophil-to-Lymphocyte Ratio and the D-dimer-to-Albumin Ratio with Deep Vein Thrombosis in Patients with Spontaneous Intracerebral Hemorrhage.

Trends and forecasting of reported hepatitis B and hepatitis C incidence in Hainan Province, China, 2005-2020.

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Molecular genetics of coagulation factor VIII gene and haemophilia A

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