Syndromic and non-syndromic GLI3 phenotypes

Online information on bowel resection for Crohn's disease.

Annals of the Royal College of Surgeons of England·2026

NOTCH3 -Related Lateral Meningocele Syndrome Presenting as Radiological Copenhagen Syndrome.

American journal of medical genetics. Part A·2025

Fighting tuberculosis hand in hand: A call to engage communities affected by TB as essential partners in research.

PLOS global public health·2025

Intravenous Reelin rescues despair-like behavior, Reelin cells in the dentate sub-granular zone, and spleen atrophy in the cyclic corticosterone model of recurring depressive episodes.

Frontiers in pharmacology·2024

Erratum: Measurement of the 2νββ Decay Half-Life of ^{130}Te with CUORE [Phys. Rev. Lett. 126, 171801 (2021)].

Physical review letters·2024

Measurement of the 2νββ Decay Rate and Spectral Shape of ^{100}Mo from the CUPID-Mo Experiment.

Physical review letters·2023

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Clinical genetics·2026

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Clinical genetics·2026

Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

Clinical genetics·2026

Novel Germline ELP1 Splice-Acceptor Variant in NF1-Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With ELP1 Variation.

Clinical genetics·2026

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

Clinical genetics·2026

Single-Cell Transcriptional States of Human Leukocyte Antigen DR Positive CD4 Positive T Cells Linked to Genetic Susceptibility of Gastric Cancer.

Immunological investigations·2026

Correction: GWAS analysis of a depression cohort defined by an EHR-phenotyping algorithm reveals the role of immune regulations in depression risk.

Frontiers in genetics·2026

Related Experiment Videos

Syndromic and non-syndromic GLI3 phenotypes

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Online information on bowel resection for Crohn's disease.

NOTCH3 -Related Lateral Meningocele Syndrome Presenting as Radiological Copenhagen Syndrome.

Fighting tuberculosis hand in hand: A call to engage communities affected by TB as essential partners in research.

Intravenous Reelin rescues despair-like behavior, Reelin cells in the dentate sub-granular zone, and spleen atrophy in the cyclic corticosterone model of recurring depressive episodes.

Erratum: Measurement of the 2νββ Decay Half-Life of ^{130}Te with CUORE [Phys. Rev. Lett. 126, 171801 (2021)].

Measurement of the 2νββ Decay Rate and Spectral Shape of ^{100}Mo from the CUPID-Mo Experiment.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

Novel Germline ELP1 Splice-Acceptor Variant in NF1-Negative Optic Pathway Glioma: Expanding the Clinical Spectrum Associated With ELP1 Variation.

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

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Syndromic and non-syndromic GLI3 phenotypes

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