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Research article

First published 2015-7

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase ( KARS ) Mutations

Hugh J. McMillan, Peter Humphreys, Amanda Smith [...]

Journal of Child Neurology

Open access

Case report

First published 2026

Expanding the Phenotypic Spectrum of SLC1A4 -Related Spastic Tetraplegia: A Case With Novel Multisystem Features

Ramzi H. Mujahed, Leyana Alawawdeh, Baraa Nassar [...]

Journal of Investigative Medicine High Impact Case Reports

Open access

Research article

First published 2021

Causes of Microcephaly in the Zika Era in Argentina: A Retrospective Study

Griselda Berberian, Rosa Bologna, María Guadalupe Pérez [...]

Sage Open Pediatrics

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Other

First published 2002-02

Pontocerebellar Hypoplasia Type 2 and Reye-Like Syndrome

Anna Sans-Fitó, Jaime Campistol-Plana, Maria José Mas-Salguero [...]

Journal of Child Neurology

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Research article

First published 2016-11

Zika Virus Induced Mortality and Microcephaly in Chicken Embryos

Forrest T. Goodfellow, Blanka Tesla, Gregory Simchick [...]

Stem Cells and Development

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Research article

First published 2005-2

Clinical,MR Imaging and MR Spectroscopy Findings in Cohen Syndrome

N. Bulakbasi, S. Ilkbahar, M. Kocaoglu

The Neuroradiology Journal

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Other

First published 2002-01

Pontocerebellar Hypoplasia in Two Siblings With Dysmorphic Features

Embiya Dilber, Fatma Müjgan Aynaci, Ali Ahmetoglu

Journal of Child Neurology

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Other

First published 1999-08

Rett Syndrome: Photographic Evidence of Rapid Regression

Agata Fiumara, Rita Barone, Giuliana D'Asero [...]

Journal of Child Neurology

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Review article

First published 2011-8

Clinical and Imaging Observations in Isolated Sulfite Oxidase Deficiency

Parayil Sankaran Bindu, Rita Christopher, Anita Mahadevan [...]

Journal of Child Neurology

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Case report

First published 2023-10-11

Acquired hydrocephalus following hypoxic ischemic encephalopathy without intraventricular hemorrhage: A case report

H. Chiyoda, S. Kobayashi, K. Yokoi [...]

Journal of Neonatal-Perinatal Medicine

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