Dinucleotide repeat polymorphism in the human taurine transporter gene (TAUT)

Long-term frailty trajectory in older ICU survivors requiring mechanical ventilation: a prospective cohort study in Norway.

Annals of intensive care·2026

Neutron-Multiplicity Measurement in Muon Capture on Oxygen Nuclei in the Gadolinium-Loaded Super-Kamiokande Detector.

Physical review letters·2026

Are birth characteristics related to bone quality measures in young adults? The HUNT study, Norway.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2026

Birth Characteristics and Bone Mineral Density and Content in Young Adults: The HUNT Study, Norway.

Calcified tissue international·2025

First Joint Oscillation Analysis of Super-Kamiokande Atmospheric and T2K Accelerator Neutrino Data.

Physical review letters·2025

Is there an association between birth characteristics and fractures in young adults? The HUNT Study, Norway.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2025

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

Human molecular genetics·2026

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Human molecular genetics·2026

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Human molecular genetics·2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

American journal of medical genetics. Part A·2026

Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants.

International journal of molecular sciences·2026

Association Study Between NOTCH2 Gene and Idiopathic Central Precocious Puberty in Korean Girls.

International journal of molecular sciences·2026

4-Phenylbutyrate Rescue in GABRA1 Variants Associated with Developmental Epileptic Encephalopathies: From Cell and Mouse Models to Humans.

Cells·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Ultrasound-guided renal artery administration of angiopoietin-1 RNA therapy slows the progression of preclinical WT1 glomerular disease.

Science translational medicine·2026

Related Experiment Videos

Dinucleotide repeat polymorphism in the human taurine transporter gene (TAUT)

Related Concept Videos

Long-term frailty trajectory in older ICU survivors requiring mechanical ventilation: a prospective cohort study in Norway.

Neutron-Multiplicity Measurement in Muon Capture on Oxygen Nuclei in the Gadolinium-Loaded Super-Kamiokande Detector.

Are birth characteristics related to bone quality measures in young adults? The HUNT study, Norway.

Birth Characteristics and Bone Mineral Density and Content in Young Adults: The HUNT Study, Norway.

First Joint Oscillation Analysis of Super-Kamiokande Atmospheric and T2K Accelerator Neutrino Data.

Is there an association between birth characteristics and fractures in young adults? The HUNT Study, Norway.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

Delineating the CTBP1-Related Phenotypic Spectrum: A Review of HADDTS and Atypical Variants.

Association Study Between NOTCH2 Gene and Idiopathic Central Precocious Puberty in Korean Girls.

4-Phenylbutyrate Rescue in GABRA1 Variants Associated with Developmental Epileptic Encephalopathies: From Cell and Mouse Models to Humans.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Ultrasound-guided renal artery administration of angiopoietin-1 RNA therapy slows the progression of preclinical WT1 glomerular disease.

Related Experiment Videos

Dinucleotide repeat polymorphism in the human taurine transporter gene (TAUT)

Related Concept Videos

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