Twenty-five novel mutations of the factor IX gene in haemophilia B

Sleep-related memory consolidation in the psychosis spectrum phenotype.

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Hereditary angioedema with a mutation in the plasminogen gene.

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Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII).

Allergy·2016

Sleep disturbance in patients taking opioid medication for chronic back pain.

Anaesthesia·2016

Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations.

Allergy·2015

Factor X deficiency and intracranial bleeding: who is at risk?

Haemophilia : the official journal of the World Federation of Hemophilia·2011

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Human mutation·2026

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

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Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Human mutation·2026

Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development.

Human mutation·2026

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

Human mutation·2026

Clinical and Genetic Spectrum of Large AIP Deletions.

Human mutation·2026

Female-specific alterations in insulin dynamics are associated with glucose tolerance in a Glut1DS mouse model.

Disease models & mechanisms·2026

The uneven landscape of cognitive domains in 22q11.2 deletion syndrome: A large consortium study.

Psychological medicine·2026

Circulating Family with Sequence Similarity 19, Member A5 as a Potential Indicator of Atherogenic Risk: Correlations with Low-Density Lipoprotein/Apolipoprotein B Ratio, Atherogenic Index, and Castelli Indices in Diet-Induced Obesity.

Iranian journal of medical sciences·2026

Biliverdin reductase A deficiency reveals sex- and brain region-specific vulnerability to high-fat diet feeding.

Redox biology·2026

Association of solute carrier family 19 member 1 (SLC19A1) A80G polymorphism with the maternal risk for having a child with Down syndrome: A systematic review and meta-analysis.

Mutation research. Reviews in mutation research·2026

Lethal Transaldolase Deficiency Mimicking Gestational Alloimmune Liver Disease: Prenatal Sonography and Identification of a Novel TALDO1 Variant.

AJP reports·2026

Related Experiment Videos

Twenty-five novel mutations of the factor IX gene in haemophilia B

Related Concept Videos

Sleep-related memory consolidation in the psychosis spectrum phenotype.

Hereditary angioedema with a mutation in the plasminogen gene.

Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII).

Sleep disturbance in patients taking opioid medication for chronic back pain.

Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations.

Factor X deficiency and intracranial bleeding: who is at risk?

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

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Twenty-five novel mutations of the factor IX gene in haemophilia B

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