Cerebellar ataxia and total albinism: a kindred suggesting pleitotropism or linkage

Molecular cloning and characterization of the filarial LIM domain proteins AvL3-1 and OvL3-1.

Experimental parasitology·1995

Cardiovascular responses to noxious stimuli during isoflurane anesthesia are minimally affected by anesthetic action in the brain.

Anesthesia and analgesia·1995

Genetics in democratic societies--the Nordic perspective.

Clinical genetics·1995

Serum Lp(a) lipoprotein levels in patients with coronary artery disease and the influence of long-term n-3 fatty acid supplementation.

Scandinavian journal of clinical and laboratory investigation·1995

A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.

Clinical genetics·1995

Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia.

Human genetics·1995

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Clinical genetics·2026

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Clinical genetics·2026

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Clinical genetics·2026

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

Longitudinal Clinical Progression in X-Linked Adrenoleukodystrophy: The AMNL Scoring System.

Annals of the Child Neurology Society·2026

Getting out of hand: niche construction theory and a multiplicity of handedness.

Laterality·2026

Accelerated biological ageing is associated with a large drusen burden.

Acta ophthalmologica·2026

Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.

Molecular genetics & genomic medicine·2026

The genome sequence of Frangula alnus Mill., 1768 (Rosales: Rhamnaceae).

Wellcome open research·2026

Body composition, geography and ethnicity: understanding the associations with health.

European journal of clinical nutrition·2026

Related Experiment Videos

Cerebellar ataxia and total albinism: a kindred suggesting pleitotropism or linkage

Related Concept Videos

Molecular cloning and characterization of the filarial LIM domain proteins AvL3-1 and OvL3-1.

Cardiovascular responses to noxious stimuli during isoflurane anesthesia are minimally affected by anesthetic action in the brain.

Genetics in democratic societies--the Nordic perspective.

Serum Lp(a) lipoprotein levels in patients with coronary artery disease and the influence of long-term n-3 fatty acid supplementation.

A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.

Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia.

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

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.

Longitudinal Clinical Progression in X-Linked Adrenoleukodystrophy: The AMNL Scoring System.

Getting out of hand: niche construction theory and a multiplicity of handedness.

Accelerated biological ageing is associated with a large drusen burden.

Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.

The genome sequence of Frangula alnus Mill., 1768 (Rosales: Rhamnaceae).

Body composition, geography and ethnicity: understanding the associations with health.

Related Experiment Videos

Cerebellar ataxia and total albinism: a kindred suggesting pleitotropism or linkage

Related Concept Videos

Related Articles