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Kleefstra Syndrome
Kleefstra Syndrome

An information page about a rare genetic syndrome

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      • Kleefstra Syndrome Clinic in America
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Kleefstra Syndrome
Kleefstra Syndrome

An information page about a rare genetic syndrome

Tag: EHMT1

Research

New clinical study from Boston Children’s Hospital expands the picture of Kleefstra Syndrome

Katerina Tzimourta,
July 20, 2025August 21, 2026

An important study from the Kleefstra Syndrome Clinic at Boston Children’s Hospital offers one of...

Research

EEG and Artificial Intelligence in Kleefstra syndrome: what we know and what the next steps are

Katerina Tzimourta,
June 2, 2025August 20, 2026

In 2025, my review titled “Machine Learning Algorithms…” was published in the scientific journal Sensors

Research

Kleefstra syndrome is broader than previously thought: what the largest EHMT1 study in 209 individuals showed

Katerina Tzimourta,
September 12, 2024August 20, 2026

For many years, the classic description of Kleefstra syndrome was based primarily on individuals with relatively...

Research

Speech, language and communication in Kleefstra syndrome: what an international study of 103 individuals showed

Katerina Tzimourta,
June 11, 2024August 21, 2026

Speech delay is one of the most frequently reported characteristics in Kleefstra syndrome….

Research

Weight, growth and metabolism in Kleefstra syndrome: New study of 62 individuals

Katerina Tzimourta,
May 19, 2024August 20, 2026

Kleefstra syndrome is known primarily as a neurodevelopmental disorder. Hypotonia, developmental delay, the...

Research

Arrhythmias and atrial fibrillation in Kleefstra syndrome

Katerina Tzimourta,
January 17, 2024August 21, 2026

An important study published in the scientific journal Europace brought to light an aspect of...

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Kleefstra Syndrome

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