Behavioural phenotypes in dysmorphic syndromes

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Near-infrared spectroscopy, pupillometry and end-tidal CO<sub>2</sub> as predictive factors of survival at hospital admission after out-of-hospital cardiac arrest.

Resuscitation plus·2026

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Dyrk1a inhibition with the Novel Compound DYR533: A Cross-Disease Therapeutic Strategy Targeting Amyloidosis, Tau Pathogenesis, and Neuroinflammation.

bioRxiv : the preprint server for biology·2026

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Gastrointestinal Dysautonomia After Immune Checkpoint Inhibitor Therapy: A Case Series and Systematic Review.

Neurogastroenterology and motility·2025

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Fatal intracranial haemorrhage shortly after belzutifan initiation in von Hippel-Lindau (VHL) disease-associated haemangioblastoma.

ESMO open·2025

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Search for Subsolar-Mass Binaries in the First Half of Advanced LIGO's and Advanced Virgo's Third Observing Run.

Physical review letters·2022

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Constraints on Cosmic Strings Using Data from the Third Advanced LIGO-Virgo Observing Run.

Physical review letters·2021

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A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia.

Clinical dysmorphology·2026

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Integrating Face2Gene analysis in the diagnosis of Van den Ende-Gupta syndrome caused by a novel SCARF2 mutation with expanded skeletal and cardiac features.

Clinical dysmorphology·2026

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Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Clinical dysmorphology·2026

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A case of serpentine fibula-polycystic kidney syndrome presenting with foetal limb shortening: a disorder of foetal osteogenesis and part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Clinical dysmorphology·2026

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Lateral nasal proboscis associated with nasal glioma: a complex unilateral craniofacial malformation.

Clinical dysmorphology·2026

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Primrose syndrome with a novel ZBTB20 variant with congenital glaucoma and hydrocephalus.

Clinical dysmorphology·2026

Related Experiment Videos

Behavioural phenotypes in dysmorphic syndromes

Related Concept Videos

Near-infrared spectroscopy, pupillometry and end-tidal CO<sub>2</sub> as predictive factors of survival at hospital admission after out-of-hospital cardiac arrest.

Dyrk1a inhibition with the Novel Compound DYR533: A Cross-Disease Therapeutic Strategy Targeting Amyloidosis, Tau Pathogenesis, and Neuroinflammation.

Gastrointestinal Dysautonomia After Immune Checkpoint Inhibitor Therapy: A Case Series and Systematic Review.

Fatal intracranial haemorrhage shortly after belzutifan initiation in von Hippel-Lindau (VHL) disease-associated haemangioblastoma.

Search for Subsolar-Mass Binaries in the First Half of Advanced LIGO's and Advanced Virgo's Third Observing Run.

Constraints on Cosmic Strings Using Data from the Third Advanced LIGO-Virgo Observing Run.

A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia.

Integrating Face2Gene analysis in the diagnosis of Van den Ende-Gupta syndrome caused by a novel SCARF2 mutation with expanded skeletal and cardiac features.

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

A case of serpentine fibula-polycystic kidney syndrome presenting with foetal limb shortening: a disorder of foetal osteogenesis and part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Lateral nasal proboscis associated with nasal glioma: a complex unilateral craniofacial malformation.

Primrose syndrome with a novel ZBTB20 variant with congenital glaucoma and hydrocephalus.

Related Experiment Videos

Behavioural phenotypes in dysmorphic syndromes

Related Concept Videos

Related Articles

Near-infrared spectroscopy, pupillometry and end-tidal CO<sub>2</sub> as predictive factors of survival at hospital admission after out-of-hospital cardiac arrest.

Dyrk1a inhibition with the Novel Compound DYR533: A Cross-Disease Therapeutic Strategy Targeting Amyloidosis, Tau Pathogenesis, and Neuroinflammation.

Gastrointestinal Dysautonomia After Immune Checkpoint Inhibitor Therapy: A Case Series and Systematic Review.

Fatal intracranial haemorrhage shortly after belzutifan initiation in von Hippel-Lindau (VHL) disease-associated haemangioblastoma.

Search for Subsolar-Mass Binaries in the First Half of Advanced LIGO's and Advanced Virgo's Third Observing Run.

Constraints on Cosmic Strings Using Data from the Third Advanced LIGO-Virgo Observing Run.

A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia.

Integrating Face2Gene analysis in the diagnosis of Van den Ende-Gupta syndrome caused by a novel SCARF2 mutation with expanded skeletal and cardiac features.

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

A case of serpentine fibula-polycystic kidney syndrome presenting with foetal limb shortening: a disorder of foetal osteogenesis and part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Lateral nasal proboscis associated with nasal glioma: a complex unilateral craniofacial malformation.

Primrose syndrome with a novel ZBTB20 variant with congenital glaucoma and hydrocephalus.