Identification of a new frameshift mutation (1801delAG) in the ALD gene

Bilateral microphthalmos with bilateral orbital cysts: individualising the treatment according to the visual potential. A case report.

Archivos de la Sociedad Espanola de Oftalmologia·2020

Post-mortem toxicology in the diagnosis of sudden death in young and middle-aged victims.

European review for medical and pharmacological sciences·2019

Nondestructive Detection of White Root Rot Disease in Avocado Rootstocks by Leaf Chlorophyll Fluorescence.

Plant disease·2019

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.

Journal of thrombosis and haemostasis : JTH·2017

Glycated hemoglobin and sleep apnea syndrome in children: beyond the apnea-hypopnea index.

Sleep & breathing = Schlaf & Atmung·2017

Total adult cardiovascular risk in Central America.

Revista panamericana de salud publica = Pan American journal of public health·2016

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

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

Human molecular genetics·2026

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Human molecular genetics·2026

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Human molecular genetics·2026

High levels of mitotic gene conversion are needed to effectively purge deleterious mutations in asexual organisms.

Genome biology and evolution·2026

The emergence of putative epistatic mutations and iSNVs in SARS-CoV-2 XBB.1.16 variants linked with alteration in immunogenic determinants.

Frontiers in immunology·2026

Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency.

Journal of human immunity·2026

Nanopore sequencing enhances the detection of low-frequency variants and mutational linkage in HIV-1 drug resistance.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases·2026

Transposon Sequencing in Leptospira interrogans.

Methods in molecular biology (Clifton, N.J.)·2026

Genetic Tools and Approaches to Study Bacterial Efflux Pumps.

Methods in molecular biology (Clifton, N.J.)·2026

Related Experiment Videos

Identification of a new frameshift mutation (1801delAG) in the ALD gene

Related Concept Videos

Bilateral microphthalmos with bilateral orbital cysts: individualising the treatment according to the visual potential. A case report.

Post-mortem toxicology in the diagnosis of sudden death in young and middle-aged victims.

Nondestructive Detection of White Root Rot Disease in Avocado Rootstocks by Leaf Chlorophyll Fluorescence.

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.

Glycated hemoglobin and sleep apnea syndrome in children: beyond the apnea-hypopnea index.

Total adult cardiovascular risk in Central America.

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.

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

High levels of mitotic gene conversion are needed to effectively purge deleterious mutations in asexual organisms.

The emergence of putative epistatic mutations and iSNVs in SARS-CoV-2 XBB.1.16 variants linked with alteration in immunogenic determinants.

Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency.

Nanopore sequencing enhances the detection of low-frequency variants and mutational linkage in HIV-1 drug resistance.

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Related Experiment Videos

Identification of a new frameshift mutation (1801delAG) in the ALD gene

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