Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia

Highest fusion performance without harmful edge energy bursts in tokamak.

Nature communications·2024

A sustained high-temperature fusion plasma regime facilitated by fast ions.

Nature·2022

Multi-chord IR-visible two-color interferometer on KSTAR.

The Review of scientific instruments·2021

Imputation of faulty magnetic sensors with coupled Bayesian and Gaussian processes to reconstruct the magnetic equilibrium in real time.

The Review of scientific instruments·2018

Rotational resonance of nonaxisymmetric magnetic braking in the KSTAR tokamak.

Physical review letters·2013

Methylation of nuclear proteins of Novikoff hepatoma.

Carcinogenesis·2012

Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric Analysis.

Human mutation·2026

Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.

Human mutation·2026

Pathogenic LRSAM1 RING Domain Variants Disrupt Intracellular Protein Localization in Charcot-Marie-Tooth Disease Type 2P.

Human mutation·2026

Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.

Human mutation·2026

SCN5A U12-Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia Disease.

Human mutation·2026

Whole Genome Sequencing of Discordant Monozygotic Twins Reveals Regulatory Variants Associated With Nonsyndromic Orofacial Clefts.

Human mutation·2026

Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort: Novel ANKRD11 Variants, 16q24.3 Deletions, and Structural Insights for Robust ANKRD11 Variant Interpretation.

Balkan medical journal·2026

Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation.

The Journal of allergy and clinical immunology·2026

CRP-albumin-lymphocyte index and multisystem diseases: a phenome-wide Mendelian randomization study.

Molecular genetics and genomics : MGG·2026

Congenital Hyperinsulinism With Paternally Inherited ABCC8 Variants: A Single Center Experience Over a Decade in Singapore.

Journal of the ASEAN Federation of Endocrine Societies·2026

Gestational age modifies associations between Group B Streptococcus genomic characteristics and postnatal age at disease onset.

Nature communications·2026

Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China.

Human genetics·2026

Related Experiment Videos

Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia

Related Concept Videos

Highest fusion performance without harmful edge energy bursts in tokamak.

A sustained high-temperature fusion plasma regime facilitated by fast ions.

Multi-chord IR-visible two-color interferometer on KSTAR.

Imputation of faulty magnetic sensors with coupled Bayesian and Gaussian processes to reconstruct the magnetic equilibrium in real time.

Rotational resonance of nonaxisymmetric magnetic braking in the KSTAR tokamak.

Methylation of nuclear proteins of Novikoff hepatoma.

Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric Analysis.

Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.

Pathogenic LRSAM1 RING Domain Variants Disrupt Intracellular Protein Localization in Charcot-Marie-Tooth Disease Type 2P.

Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.

SCN5A U12-Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia Disease.

Whole Genome Sequencing of Discordant Monozygotic Twins Reveals Regulatory Variants Associated With Nonsyndromic Orofacial Clefts.

Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort: Novel ANKRD11 Variants, 16q24.3 Deletions, and Structural Insights for Robust ANKRD11 Variant Interpretation.

Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation.

CRP-albumin-lymphocyte index and multisystem diseases: a phenome-wide Mendelian randomization study.

Congenital Hyperinsulinism With Paternally Inherited ABCC8 Variants: A Single Center Experience Over a Decade in Singapore.

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Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia

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