Whole Exome Sequencing for the Diagnosis of Rare Genetic Neurodevelopmental Disorders Associated with Cerebellar Atrophy
Alaaeldin Fayez
Research Square (Research Square), 2023
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Progressive Megalencephaly Due to Specific EIF2B Mutations in Two Unrelated Families
T Billette
Neurology, 2007
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Molecular Genetics and Fetal Brain
Ritsuko Pooh
Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2008
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eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs
Sakkubai Naidu
The American Journal of Human Genetics, 2003
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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Julie McGaughran
Orphanet Journal of Rare Diseases
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Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
Gabriela Oprea
Journal of Neurodevelopmental Disorders, 2019
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Prenatal diagnosis of Pontocerebellar hypoplasia associated with rare syndromes : Expanding the genetic and phenotypic spectrum
Tushar Desai
Ultrasound in Obstetrics & Gynecology, 2020
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New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect
Mahmoud Issa
American Journal of Medical Genetics Part A, 2011
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Central nervous system malformations: gene locations of known human mutations
Harvey Sarnat
European Journal of Paediatric Neurology, 2003
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Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study
Wenhao Zhou
Clinical Genetics, 2020
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A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23
Mohammad Kabiraj
Brain, 2007
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Molecular and Neuroimaging Findings in Pontocerebellar Hypoplasia Type 2 (PCH2): Is Prenatal Diagnosis Possible?
Charles Niesen
American Journal of Medical Genetics Part A
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De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus
Jonathan D. Dinman
Human Molecular Genetics, 2020
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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Cecile Masson
Orphanet Journal of Rare Diseases, 2016
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Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype
Ola Eid
American Journal of Medical Genetics, 2015
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Agenesis of the Mesencephalon and Metencephalon with Cerebellar Hypoplasia: Putative Mutation in the EN2 Gene--Report of 2 Cases in Early Infancy
Harvey Sarnat
Pediatric and Developmental Pathology, 2002
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Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up
melis özkan
Clinical Neurology and Neurosurgery, 2018
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Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships
Ton Van Essen
American Journal of Medical Genetics, 2004
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Abnormal cerebellar foliation in EBF3 mutation
Corrado Romano
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Diana Baralle
American journal of human genetics, 2016
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EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease
Leah Ferrante
Neurology Genetics, 2020
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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Annick Toutain
Genetics in medicine : official journal of the American College of Medical Genetics, 2018
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Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly
francesca mercadante
Frontiers in Neurology, 2023
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