Genetics of hereditary nephropathy with deafness (Alport's disease)

Evidence for functional state transitions in intensively-managed soil ecosystems.

Scientific reports·2018

Distinct respiratory responses of soils to complex organic substrate are governed predominantly by soil architecture and its microbial community.

Soil biology & biochemistry·2016

On the origin of carbon dioxide released from rewetted soils.

Soil biology & biochemistry·2016

Defining and quantifying the resilience of responses to disturbance: a conceptual and modelling approach from soil science.

Scientific reports·2016

A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED).

American journal of medical genetics·2001

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.

European journal of human genetics : EJHG·2000

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

Correlation between serum cerebral dopamine neurotrophic factor levels and severity of coronary artery lesions in acute myocardial infarction.

Journal of thoracic disease·2026

Clinical features associated with cerebrospinal fluid Epstein-Barr virus positivity in autoimmune GFAP astrocytopathy: a multicenter retrospective cohort study.

Frontiers in neurology·2026

Autonomic cardiovascular changes during reactive hyperemia.

Clinical physiology and functional imaging·2026

A Novel SXXLF Motif in the FXR N-Terminal Domain Mediates Coregulator and Interdomain Interactions.

Chembiochem : a European journal of chemical biology·2026

Corticotropin-releasing hormone neurons in the bed nucleus of the stria terminalis control wakefulness in physiological and stressful conditions in mice.

Molecular psychiatry·2026

Potentiated angiotensin AT1 receptor activity is associated with age-dependent expansion of adrenal-projecting presympathetic circuitry in hypertension.

Neurobiology of disease·2026

Related Experiment Videos

Genetics of hereditary nephropathy with deafness (Alport's disease)

Related Concept Videos

Evidence for functional state transitions in intensively-managed soil ecosystems.

Distinct respiratory responses of soils to complex organic substrate are governed predominantly by soil architecture and its microbial community.

On the origin of carbon dioxide released from rewetted soils.

Defining and quantifying the resilience of responses to disturbance: a conceptual and modelling approach from soil science.

A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED).

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.

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?

Correlation between serum cerebral dopamine neurotrophic factor levels and severity of coronary artery lesions in acute myocardial infarction.

Clinical features associated with cerebrospinal fluid Epstein-Barr virus positivity in autoimmune GFAP astrocytopathy: a multicenter retrospective cohort study.

Autonomic cardiovascular changes during reactive hyperemia.

A Novel SXXLF Motif in the FXR N-Terminal Domain Mediates Coregulator and Interdomain Interactions.

Corticotropin-releasing hormone neurons in the bed nucleus of the stria terminalis control wakefulness in physiological and stressful conditions in mice.

Potentiated angiotensin AT1 receptor activity is associated with age-dependent expansion of adrenal-projecting presympathetic circuitry in hypertension.

Related Experiment Videos

Genetics of hereditary nephropathy with deafness (Alport's disease)

Related Concept Videos

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