Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient

High intensity vanadium beam for synthesis of new superheavy elements with well-controlled emittance by using "slit triplet".

The Review of scientific instruments·2020

Control system for the new RIKEN 28-GHz superconducting electron cyclotron resonance ion source for SRILAC.

The Review of scientific instruments·2020

Effective multiple sideband generation using an electro-optic modulator for a multiple isotope magneto-optical trap.

The Review of scientific instruments·2019

Characterisation of a sucrose-independent in vitro biofilm model of supragingival plaque.

Oral diseases·2017

Adherence to clinical practice guidelines for the management of Clostridium difficile infection in Japan: a multicenter retrospective study.

European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology·2017

Effect of L-thyroxine supplementation on very low birth weight infants with transient hypothyroxinemia of prematurity at 3 years of age.

Journal of perinatology : official journal of the California Perinatal Association·2017

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

Correction to: Cerebral Foreign Body Granulomatous Reaction Secondary to Hydrophilic Polymer Embolization Post-Mechanical Thrombectomy: A Case Report and Overview of Differential Diagnosis.

Stroke (Hoboken, N.J.)·2026

Characterisation of the Novel HLA-A*03:541 Allele by Next-Generation Sequencing.

HLA·2026

Microaxial Flow Pump Thrombosis Presenting as Predominant Direct Hyperbilirubinemia.

JACC. Case reports·2026

Metachronous Bilateral Ruptured True Deep Femoral Artery Aneurysms: A Case Report.

Annals of vascular diseases·2026

Correction: Apa et al. Ultrasonic Surgical Aspirator in Intramedullary Spinal Cord Tumours Treatment: A Simulation Study of Vibration and Temperature Field. Bioengineering 2025, 12, 842.

Bioengineering (Basel, Switzerland)·2026

A Rare Rescue Case of Post-biopsy Pseudoaneurysm Treated by Direct Percutaneous Glue Injection after Failed Embolization.

Interventional radiology (Higashimatsuyama-shi (Japan)·2026

Related Experiment Videos

Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient

Related Concept Videos

High intensity vanadium beam for synthesis of new superheavy elements with well-controlled emittance by using "slit triplet".

Control system for the new RIKEN 28-GHz superconducting electron cyclotron resonance ion source for SRILAC.

Effective multiple sideband generation using an electro-optic modulator for a multiple isotope magneto-optical trap.

Characterisation of a sucrose-independent in vitro biofilm model of supragingival plaque.

Adherence to clinical practice guidelines for the management of Clostridium difficile infection in Japan: a multicenter retrospective study.

Effect of L-thyroxine supplementation on very low birth weight infants with transient hypothyroxinemia of prematurity at 3 years of age.

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.

Correction to: Cerebral Foreign Body Granulomatous Reaction Secondary to Hydrophilic Polymer Embolization Post-Mechanical Thrombectomy: A Case Report and Overview of Differential Diagnosis.

Characterisation of the Novel HLA-A*03:541 Allele by Next-Generation Sequencing.

Microaxial Flow Pump Thrombosis Presenting as Predominant Direct Hyperbilirubinemia.

Metachronous Bilateral Ruptured True Deep Femoral Artery Aneurysms: A Case Report.

Correction: Apa et al. Ultrasonic Surgical Aspirator in Intramedullary Spinal Cord Tumours Treatment: A Simulation Study of Vibration and Temperature Field. Bioengineering 2025, 12, 842.

A Rare Rescue Case of Post-biopsy Pseudoaneurysm Treated by Direct Percutaneous Glue Injection after Failed Embolization.

Related Experiment Videos

Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient

Related Concept Videos

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