Response to Finsterer and Stöllberger "Explanations for discordance of noncompaction in monozygotic twins"

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

Human genetics·2026

A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk.

American journal of medical genetics. Part A·2026

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

medRxiv : the preprint server for health sciences·2025

Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.

Neurology. Genetics·2024

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Genes·2024

Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy.

Neurology. Genetics·2024

A Rare Cause of Intellectual Disability: Novel Mutation of ALKBH8 Gene in Two Different Families and Review of the Literature.

American journal of medical genetics. Part A·2026

Characterization of Families Adopting Children With Down Syndrome and Exploratory Associations With Neuropsychiatric Outcomes.

American journal of medical genetics. Part A·2026

Genotype-Phenotype Correlations in KRT17-PEDD: The Critical Role of Codon 88.

American journal of medical genetics. Part A·2026

Meier-GORLIN Syndrome Caused by Compound Heterozygous CDC6 Variants.

American journal of medical genetics. Part A·2026

Expanding the Genotypic and Phenotypic Spectrum of Li-Campeau Syndrome: A Homozygous Single-Exon Deletion in UBR7.

American journal of medical genetics. Part A·2026

Absent Septum Pellucidum Without Polymicrogyria or Seizures in TCP1-Related Neurodevelopmental Disorder.

American journal of medical genetics. Part A·2026

Design principles and functionalization strategies of injectable hydrogels based on natural polymers for advanced wound healing.

Biomaterials advances·2026

Dynamics of TFIIH and Spt4/5 during the transition from transcription initiation to elongation.

Proceedings of the National Academy of Sciences of the United States of America·2026

Micromotion Area as Proxy for Anomalous Floquet Topological Systems.

Physical review letters·2026

Ginsenoside Rh2, a putative functional modulator of Annexin A2, attenuates post-hemorrhagic stroke cerebral edema via inhibiting vesicular transcytosis.

Journal of ginseng research·2026

Short-Term Changes in Lower Extremity Volume After Radiofrequency Diathermy in Women with Idiopathic Lower Extremity Edema: A Randomized Crossover Trial.

Journal of clinical medicine·2026

Topological Reconfiguration in Sheared Granular Assemblies: Non-Dissipative Mechanism and Its Irreversible Characteristics.

Materials (Basel, Switzerland)·2026

Response to Finsterer and Stöllberger "Explanations for discordance of noncompaction in monozygotic twins"

Related Experiment Videos

Related Concept Videos

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk.

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy.

A Rare Cause of Intellectual Disability: Novel Mutation of ALKBH8 Gene in Two Different Families and Review of the Literature.

Characterization of Families Adopting Children With Down Syndrome and Exploratory Associations With Neuropsychiatric Outcomes.

Genotype-Phenotype Correlations in KRT17-PEDD: The Critical Role of Codon 88.

Meier-GORLIN Syndrome Caused by Compound Heterozygous CDC6 Variants.

Expanding the Genotypic and Phenotypic Spectrum of Li-Campeau Syndrome: A Homozygous Single-Exon Deletion in UBR7.

Absent Septum Pellucidum Without Polymicrogyria or Seizures in TCP1-Related Neurodevelopmental Disorder.

Design principles and functionalization strategies of injectable hydrogels based on natural polymers for advanced wound healing.

Dynamics of TFIIH and Spt4/5 during the transition from transcription initiation to elongation.

Micromotion Area as Proxy for Anomalous Floquet Topological Systems.

Ginsenoside Rh2, a putative functional modulator of Annexin A2, attenuates post-hemorrhagic stroke cerebral edema via inhibiting vesicular transcytosis.

Short-Term Changes in Lower Extremity Volume After Radiofrequency Diathermy in Women with Idiopathic Lower Extremity Edema: A Randomized Crossover Trial.

Topological Reconfiguration in Sheared Granular Assemblies: Non-Dissipative Mechanism and Its Irreversible Characteristics.

Response to Finsterer and Stöllberger "Explanations for discordance of noncompaction in monozygotic twins"

Related Experiment Videos

Related Concept Videos

Related Articles