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First published 2010-6

Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly

Rizwana Kousar, Hira Nawaz, Maryam Khurshid [...]

Journal of Child Neurology

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Research article

First published 2024-5

Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One

Muhammad Talal Alrifai, Yousof Alrumayyan, Duaa Baarmah [...]

Journal of Child Neurology

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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Research article

First published 2004-3

A Case of Cleft Lip and Palate Associated with Seckel Syndrome

Jyotsna Murthy, Krishna G. Seshadri, Padmasani Venkat Ramanan [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2018-4

Neurologic Involvement in Primary Immunodeficiency Disorders

Mirac Yildirim, Deniz Cagdas Ayvaz, Bahadir Konuskan [...]

Journal of Child Neurology

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Research article

First published 2022-01

A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family

Syeda Farwa Naqvi, Rana Muhammad Kamran Shabbir, Aslıhan Tolun [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2018-03

Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing

Amjad Khan, Rongrong Wang, Shirui Han [...]

Genetic Testing and Molecular Biomarkers

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Review article

First published 2005-04

Topical Review: Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach

Ganeshwaran H. Mochida

Journal of Child Neurology

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Research article

First published 2019-2

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

Andrea Accogli, Kether Guerrero, Maria Daniela D’Agostino

Journal of Child Neurology

Retricted access

Review article

First published 2004-03

Topical Review: Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach

Ganeshwaran H. Mochida

Journal of Child Neurology

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