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Case report

First published 2026-3

Developmental Epileptic Encephalopathy in a Pediatric Patient: Insights from a Novel SULT4A1 Variant and Genetic Challenges

Mohammad Bdair, Orabi Hajjeh, Muhammad Takhman [...]

Journal of Child Neurology

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Case report

First published 2016-11

Cyst-like change in the thyroid cartilage: A developmental variant in children

Karen Chetcuti, Shivaram Avula

Ultrasound

Open access

Case report

First published 2024

Unveiling a de novo SYNGAP1 variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report

Norma E de León Ojeda, Fridha V Villalpando-Vargas, Fabrizio A Mortola [...]

Sage Open Medical Case Reports

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Research article

First published 2023-03

A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip

Dan Yang, Zaiwei Zhou, Shiqi Wang [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2023-10

Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip

Yi-Lei Lu, Qin Wang, Min Wang [...]

DNA and Cell Biology

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Research article

First published 2022-4

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome

Kristin W. Barañano, Amy Kimball, Susan L. Fong [...]

Journal of Child Neurology

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Research article

First published 2025-11

NRXN2 Homozygous Variant Identified in a Family with Global Developmental Delay,Severe Intellectual Disability,EEG Abnormalities and Speech Delay: A new Syndrome?

Derya Karaer, Ayşe Aysima Özçelik, Kadri Karaer

Clinical EEG and Neuroscience

Open access

Research article

First published 2022-10

Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy

Sanghoon Lee, Bo Ram Kim, Young Ok Kim

Science Progress

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Editorial

First published 2021-11

Acknowledging Bias and Pursuing Protections to Support Anti-Racist Developmental Science: Critical Contributions of Phenomenological Variant of Ecological Systems Theory

Margaret Beale Spencer

Journal of Adolescent Research

Open access

Case report

First published 2016-7

Fetal-Type Variants of the Posterior Cerebral Artery and Concurrent Infarction in the Major Arterial Territories of the Cerebral Hemisphere

Stephen L. Lambert, Frank J. Williams, Zhora Z. Oganisyan [...]

Journal of Investigative Medicine High Impact Case Reports

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