Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

Cross-architecture tuning of silicon and SiGe-based quantum devices using machine learning.

Scientific reports·2024

Candidacy and long-term outcomes of subcutaneous implantable cardioverter-defibrillators in current practice in patients with hypertrophic cardiomyopathy.

International journal of cardiology·2024

Reporting standard for describing first responder systems, smartphone alerting systems, and AED networks.

Resuscitation·2023

Nanostructured 3C-SiC on Si by a network of (111) platelets: a fully textured film generated by intrinsic growth anisotropy.

Physical chemistry chemical physics : PCCP·2022

TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway.

Nature communications·2019

Voltage-tunable dual-band Ge/Si photodetector operating in VIS and NIR spectral range.

Optics express·2019

De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons.

American journal of human genetics·2026

Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.

American journal of human genetics·2026

Loss of the human BRIP1 C terminus does not cause Fanconi anemia.

American journal of human genetics·2026

A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism.

American journal of human genetics·2026

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

American journal of human genetics·2026

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.

American journal of human genetics·2026

Multiple Argonaute complexes orchestrate epigenetic silencing in the Arabidopsis germline.

Nature communications·2026

Parallel Development and Maturation of GABAergic Interneurons and Corticotrophin-releasing Factor Signaling within the Amygdala Complex.

Neuroscience and biobehavioral reviews·2026

MYCBP ensures faithful chromosome segregation during mitosis by anchoring Astrin/SKAP to kinetochore.

The Journal of biological chemistry·2026

Four-stranded G4 DNA Formation During Synthesis Phase of the Cell Cycle Protects Human Cells from Radiation Induced DNA Breaks.

The Journal of biological chemistry·2026

DNAJC17 regulates RNA splicing in auditory hair cells and is required for hearing.

Journal of genetics and genomics = Yi chuan xue bao·2026

Reclassification of the type B CAT family and identification of the novel chloramphenicol acetyltransferase CatB14 in Riemerella anatipestifer.

Veterinary microbiology·2026

Related Experiment Videos

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung

Related Concept Videos

Cross-architecture tuning of silicon and SiGe-based quantum devices using machine learning.

Candidacy and long-term outcomes of subcutaneous implantable cardioverter-defibrillators in current practice in patients with hypertrophic cardiomyopathy.

Reporting standard for describing first responder systems, smartphone alerting systems, and AED networks.

Nanostructured 3C-SiC on Si by a network of (111) platelets: a fully textured film generated by intrinsic growth anisotropy.

TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway.

Voltage-tunable dual-band Ge/Si photodetector operating in VIS and NIR spectral range.

De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons.

Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.

Loss of the human BRIP1 C terminus does not cause Fanconi anemia.

A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism.

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.

Multiple Argonaute complexes orchestrate epigenetic silencing in the Arabidopsis germline.

Parallel Development and Maturation of GABAergic Interneurons and Corticotrophin-releasing Factor Signaling within the Amygdala Complex.

MYCBP ensures faithful chromosome segregation during mitosis by anchoring Astrin/SKAP to kinetochore.

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Related Experiment Videos

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung...

Related Concept Videos

Related Articles

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung