A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

[Aerosol therapy in spontaneously breathing tracheostomized patients: an in vitro study].

Die Anaesthesiologie·2025

VGF AQEE- and GGEE-peptides differentiate between dementia types.

Journal of neurology·2025

Lipid-lowering and antioxidant properties of probiotic Bifidobacterium animalis MSMC83 in rats on a high-fat diet.

Beneficial microbes·2024

Frequency of an intrathecal IgM synthesis and MRZ reaction in children with MS.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2024

Virus discovery in dogs with non-suppurative encephalitis reveals a high incidence of tick-borne encephalitis virus infections in Switzerland.

Schweizer Archiv fur Tierheilkunde·2023

[Cholecystolithiasis and intestinal bypass procedures].

Chirurgie (Heidelberg, Germany)·2023

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

Human molecular genetics·2026

Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.

Human molecular genetics·2026

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Human molecular genetics·2026

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Human molecular genetics·2026

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Human molecular genetics·2026

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Human molecular genetics·2026

Deciphering the genomic landscape of Trichophyton indotineae in China and exploring a correlative model for azole resistance prediction.

Microbial genomics·2026

Tagln1-Cre driven Ercc1 deficiency reveals sex specific effects on adipose tissue in mice.

Endocrinology·2026

Charting the Phenotypic Landscape of FBN1 Variants in Marfan Syndrome With Ectopia Lentis Through Extreme Phenotype Sampling.

Investigative ophthalmology & visual science·2026

The Relationship Between the Gut Microbiome and Executive Function in Adolescents With Overweight and Obesity.

Journal of paediatrics and child health·2026

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

Human mutation·2026

What-if effects: A tale of entangled covariates.

Patterns (New York, N.Y.)·2026

Related Experiment Videos

A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

Related Concept Videos

[Aerosol therapy in spontaneously breathing tracheostomized patients: an in vitro study].

VGF AQEE- and GGEE-peptides differentiate between dementia types.

Lipid-lowering and antioxidant properties of probiotic Bifidobacterium animalis MSMC83 in rats on a high-fat diet.

Frequency of an intrathecal IgM synthesis and MRZ reaction in children with MS.

Virus discovery in dogs with non-suppurative encephalitis reveals a high incidence of tick-borne encephalitis virus infections in Switzerland.

[Cholecystolithiasis and intestinal bypass procedures].

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Deciphering the genomic landscape of Trichophyton indotineae in China and exploring a correlative model for azole resistance prediction.

Tagln1-Cre driven Ercc1 deficiency reveals sex specific effects on adipose tissue in mice.

Charting the Phenotypic Landscape of FBN1 Variants in Marfan Syndrome With Ectopia Lentis Through Extreme Phenotype Sampling.

The Relationship Between the Gut Microbiome and Executive Function in Adolescents With Overweight and Obesity.

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What-if effects: A tale of entangled covariates.

Related Experiment Videos

A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

Related Concept Videos

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