The heritability of serum lipoprotein and lipid concentrations. A twin study

Expanding the genotypic spectrum of Perrault syndrome.

Clinical genetics·2016

Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents.

Clinical genetics·2010

Correlation between prenatal ultrasound and autopsy findings: A study of second-trimester abortions.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2006

The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.

Clinical and experimental immunology·2004

[Genetic analysis in familial adenomatous polyposis].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2002

[Need of better knowledge of genetic tests among Norwegian physicians].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke·2001

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Adult-Onset Alagille Syndrome Presenting With Recurrent Cholestasis: A Rare Genetic Diagnosis Confirmed by Whole Exome Sequencing.

Cureus·2026

Genomic meta-analyses of binge-eating behavior and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

Nature. Mental health·2026

The genome sequence of the Bluebell moth, Eana incanana (Stephens, 1852) (Lepidoptera: Tortricidae).

Wellcome open research·2026

Co-Heredity of (-α)20.5 Deletion and IVS I-1 G > A (HBB: C.92 + 1 G > A) Mutations in a Pediatric Patient: A Cause of Moderate Anemia Phenotype?

Hemoglobin·2026

Large-scale admixture mapping in the All of Us Research Program improves the characterization of cross-population phenotypic differences.

Nature communications·2026

Accelerated Aging Fontan Phenotype Is Associated With Systemic Right Ventricles and Adverse Hemodynamics.

Journal of the American Heart Association·2026

Related Experiment Videos

The heritability of serum lipoprotein and lipid concentrations. A twin study

Related Concept Videos

Expanding the genotypic spectrum of Perrault syndrome.

Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents.

Correlation between prenatal ultrasound and autopsy findings: A study of second-trimester abortions.

The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.

[Genetic analysis in familial adenomatous polyposis].

[Need of better knowledge of genetic tests among Norwegian physicians].

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Adult-Onset Alagille Syndrome Presenting With Recurrent Cholestasis: A Rare Genetic Diagnosis Confirmed by Whole Exome Sequencing.

Genomic meta-analyses of binge-eating behavior and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

The genome sequence of the Bluebell moth, Eana incanana (Stephens, 1852) (Lepidoptera: Tortricidae).

Co-Heredity of (-α)20.5 Deletion and IVS I-1 G > A (HBB: C.92 + 1 G > A) Mutations in a Pediatric Patient: A Cause of Moderate Anemia Phenotype?

Large-scale admixture mapping in the All of Us Research Program improves the characterization of cross-population phenotypic differences.

Accelerated Aging Fontan Phenotype Is Associated With Systemic Right Ventricles and Adverse Hemodynamics.

Related Experiment Videos

The heritability of serum lipoprotein and lipid concentrations. A twin study

Related Concept Videos

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