A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene

Efficacy and safety of novel VAC-Stent in management of upper gastrointestinal post-surgical leaks: results from a large multicenter study in tertiary referral centers.

Gastrointestinal endoscopy·2026

[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

Parkinson's disease-associated LRRK2 risk variant, G2385R, enhances Rab substrate phosphorylation and impairs neuronal integrity.

Human molecular genetics·2026

Pleiotropy and eQTL analysis identify shared genetic architecture of lipid traits in African-ancestry populations.

Human molecular genetics·2026

Multidisciplinary pathogenicity assessment of congenital hypothyroidism-associated SLC5A5 gene variants.

Human molecular genetics·2026

Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype-phenotype correlations and reporting of 12 novel GALNS variants.

Human molecular genetics·2026

Shared genetic architecture of schizophrenia and lupus identifies pleiotropic loci with distinct downstream mechanisms.

Human molecular genetics·2026

Motor dysfunction phenotypes in a drosophila model validate DAO as an ALS gene.

Human molecular genetics·2026

Estimating the Heritability of Intelligence with a Nuclear Twin Family Design.

Twin research and human genetics : the official journal of the International Society for Twin Studies·2026

Gut microbiota and the gut-brain axis in autism spectrum disorder and attention-deficit/hyperactivity disorder: A scoping review of shared and disorder-specific mechanistic pathways.

AIMS microbiology·2026

Case Report: Neonatal lethality caused by novel compound heterozygous missense variants of SLC6A9 gene.

Frontiers in pediatrics·2026

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders.

medRxiv : the preprint server for health sciences·2026

A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome.

medRxiv : the preprint server for health sciences·2026

Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants: A case report and literature review.

Medicine·2026

Related Experiment Videos

A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor

Related Concept Videos

Efficacy and safety of novel VAC-Stent in management of upper gastrointestinal post-surgical leaks: results from a large multicenter study in tertiary referral centers.

[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.

Parkinson's disease-associated LRRK2 risk variant, G2385R, enhances Rab substrate phosphorylation and impairs neuronal integrity.

Pleiotropy and eQTL analysis identify shared genetic architecture of lipid traits in African-ancestry populations.

Multidisciplinary pathogenicity assessment of congenital hypothyroidism-associated SLC5A5 gene variants.

Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype-phenotype correlations and reporting of 12 novel GALNS variants.

Shared genetic architecture of schizophrenia and lupus identifies pleiotropic loci with distinct downstream mechanisms.

Motor dysfunction phenotypes in a drosophila model validate DAO as an ALS gene.

Estimating the Heritability of Intelligence with a Nuclear Twin Family Design.

Gut microbiota and the gut-brain axis in autism spectrum disorder and attention-deficit/hyperactivity disorder: A scoping review of shared and disorder-specific mechanistic pathways.

Case Report: Neonatal lethality caused by novel compound heterozygous missense variants of SLC6A9 gene.

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders.

A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome.

Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants: A case report and literature review.

Related Experiment Videos

A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor...

Related Concept Videos

Related Articles

A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor