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First published 2008-10

Tuberous Sclerosis Complex With Polycystic Kidney Disease of the Adult Type: the TSC2/ADPKD1 Contiguous Gene Syndrome

Michele Bisceglia, Carlos Galliani, Illuminato Carosi [...]

International Journal of Surgical Pathology

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Case report

First published 2001-12

Tuberous Sclerosis Complex with an Unruptured Intracranial Aneurysm: Manifestations of Contiguous Gene Syndrome

Y.L. Chen, C.B. Luo, S.W. Hsu [...]

Interventional Neuroradiology

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Research article

First published 2024-3

TSC2/PKD1 Contiguous Gene Deletion Syndrome

Javier Arredondo Montero, Mónica Bronte Anaut, María Velayos [...]

Clinical Pediatrics

Free access

Research article

First published 2012-5

Microdeletion and Microduplication Syndromes

Anja Weise, Kristin Mrasek, Elisabeth Klein [...]

Journal of Histochemistry & Cytochemistry

Open access

Case report

First published 2025

Genetic and Clinical Characterization of Complex Glycerol Kinase Deficiency in Two Male Siblings: A Case Report

Kakha Bregvadze, Nino Kheladze, Nana Nino Tatishvili [...]

Clinical Medicine Insights: Endocrinology and Diabetes

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Research article

First published 2025-5

Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients

Johanna Pohl, Harry Nuss, Almuth Caliebe [...]

Journal of Child Neurology

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Other

First published 2000-01

Syndrome of Microcephaly,Mental Retardation,and Tracheoesophageal Fistula Associated With Features of Rett Syndrome

Avinash K. Shetty, Rachael Chatters, Ann H. Tilton [...]

Journal of Child Neurology

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Research article

First published 1999-1

Elastin Region Deletions in Williams Syndrome

Jun Zhang, Anil Kumar, Kyle Roux [...]

Genetic Testing and Molecular Biomarkers

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Other

First published 1999-05

Periventricular Brain Heterotopias in a Child With Adrenocortical Insufficiency,Achalasia,Alacrima,and Neurologic Abnormalities (Allgrove Syndrome)

Avraham Zeharia, Avinoam Shuper, Marc Mimouni [...]

Journal of Child Neurology

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Research article

First published 2010-08

Chromosomal Distribution of Disease Genes in the Human Genome

David N. Cooper, Edward V. Ball, Matthew Mort

Genetic Testing and Molecular Biomarkers

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