Ola Kierzkowska
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View article: Functional Assessment and Impact of Seizures on Cognitive Outcome in a Cohort of Individuals with KBG Syndrome
Functional Assessment and Impact of Seizures on Cognitive Outcome in a Cohort of Individuals with KBG Syndrome Open
OBJECTIVE This study aimed to further examine the impact of epileptic seizures on neurocognitive outcomes in KBG syndrome, a rare genetic neurodevelopmental disorder characterized by pathogenic variants in the gene ANKRD11. METHODS A singl…
View article: Table of Contents, Volume 194A, Number 4, April 2024
Table of Contents, Volume 194A, Number 4, April 2024 Open
View article: Ultrasound and magnetic resonance imaging–based investigation of the role of perfusion and oxygen availability in menstrual pain
Ultrasound and magnetic resonance imaging–based investigation of the role of perfusion and oxygen availability in menstrual pain Open
View article: Ocular manifestations in a cohort of 43 patients with <scp>KBG</scp> syndrome
Ocular manifestations in a cohort of 43 patients with <span>KBG</span> syndrome Open
Ophthalmological conditions are underreported in patients with KBG syndrome, which is classically described as presenting with dental, developmental, intellectual, skeletal, and craniofacial abnormalities. This study analyzed the prevalenc…
View article: Ocular Manifestations in a Cohort of 43 Patients with KBG Syndrome
Ocular Manifestations in a Cohort of 43 Patients with KBG Syndrome Open
Ophthalmological conditions are underreported in patients with KBG syndrome, which is classically described as presenting with dental, developmental, intellectual, skeletal, and craniofacial abnormalities. This study analyzed the prevalenc…
View article: Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with <scp>KBG</scp> syndrome
Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with <span>KBG</span> syndrome Open
Ankyrin Repeat Domain 11 ( ANKRD11 ) gene mutations are associated with KBG syndrome, a developmental disability that affects multiple organ systems. The function of ANKRD11 in human growth and development is not clear, but gene knockout o…
View article: Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome
Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome Open
Mutations in the Ankyrin Repeat Domain 11 ( ANKRD11 ) gene are associated with KBG syndrome, a developmental disability that affects multiple organ systems and presents with a variety of skeletal, cardiac, gastrointestinal, and neuropsychi…