Disease: Microencephaly
- <em>In silico</em> screening for potential inhibitors from the phytocompounds of <em>Carica papaya</em> against Zika virus NS5 protein
- 20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report
- A founder mutation in <em>CA5A</em> causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency
- A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
- A nationwide survey of Vici syndrome in Japan
- A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder
- A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl
- A Rare Case of Unilateral Fetal Cataract and Coincidental Polydactyly in Congenital Toxoplasmosis
- AAV-mediated Stambp gene replacement therapy rescues neurological defects in a mouse model of microcephaly-capillary malformation syndrome
- Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum
- Argentine and World Health Organization head circumference standards: A comparison study
- Astrocytes control quiescent NSC reactivation via GPCR signaling-mediated F-actin remodeling
- Astrocytes control quiescent NSC reactivation via GPCR signaling-mediated F-actin remodeling
- AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/β-catenin pathway
- Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
- Birth defects in a rural province in Papua New Guinea
- Buccal Administration of a Zika Virus Vaccine Utilizing 3D-Printed Oral Dissolving Films in a Mouse Model
- Cerebral Folate Transport Deficiency in 2 Cases with Intractable Myoclonic Epilepsy
- Chromosomal 1p Duplication in a Pediatric Patient: A Case Report
- Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report
- Clinical and genetic analysis of a case of O'Donnell-Luria-Rodan syndrome manifesting as growth retardation
- Clinical spectrum of congenital Zika virus infection in Brazil: Update and issues for research development
- Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011-2020
- Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile)
- Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
- Developmental and epileptic encephalopathy produced by the ATP1A2 mutation
- Diagnostic Utility of Preserved Dried Umbilical Cord Polymerase Chain Reaction in Intrauterine Herpes Simplex Virus Infection: A Case Report and Literature Review
- DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans
- Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report
- Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis
- Disruption of myelin structure and oligodendrocyte maturation in a macaque model of congenital Zika infection
- Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
- Eg5 and Diseases: From the Well-Known Role in Cancer to the Less-Known Activity in Noncancerous Pathological Conditions
- Eg5 UFMylation promotes spindle organization during mitosis
- Elucidating the inhibitory mechanism of Zika virus NS2B-NS3 protease with dipeptide inhibitors: Insights from molecular docking and molecular dynamics simulations
- Epilepsy as a Novel Phenotype of BPTF-Related Disorders
- Evaluation of the antiviral activity of new dermaseptin analogs against Zika virus
- Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy
- Expanding the clinical phenotype and variant spectrum associated with RFX7
- Exploring the pathological mechanisms underlying Cohen syndrome
- Feeding practices and weight status of children with congenital Zika syndrome: A longitudinal study in Brazil
- Floating-Harbor Syndrome: A Systematic Literature Review and Case Report
- Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case
- Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
- Genomic sequencing: ending the diagnostic odyssey for a child with microcephaly and dystonia with a perioperative challenge
- Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy
- Glass syndrome derived from chromosomal breakage downstream region of SATB2
- GRM7 deficiency, from excitotoxicity and neuroinflammation to neurodegeneration: Systematic review of GRM7 deficient patients
- Hinge Craniotomy for Posterior Cranial Vault Expansion: Using the Keel to the Surgeon's Advantage
- HiPSC-derived 3D neural models reveal neurodevelopmental pathomechanisms of the Cockayne Syndrome B
- hnRNPs: roles in neurodevelopment and implication for brain disorders
- Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences
- IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport
- IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients
- IGF1 haploinsufficiency: phenotype and response to growth hormone treatment in nine patients
- Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1
- Increased Angiotensin I-Converting Enzyme Activity in Zika Virus-Infected Mouse Brain: Implications for Therapy?
- Infection by zika virus increase angiotensin I-converting enzyme activity in mouse brain
- Intranasal Immunization for Zika in a Pre-Clinical Model
- invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences
- Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience
- Little-known virus surging in Latin America may harm fetuses
- Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10
- Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
- Medulloblastomas Initiated by Homologous Recombination Defects in Mice
- MicroRNA profiles in Zika virus infection: Insights from diverse sources
- Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly
- Mowat-Wilson syndrome: Case report
- Multiplex Consanguineous Family Highlights <em>CLASP1</em> as a Candidate Gene for Lissencephaly
- Neurodevelopmental Outcomes of Preschoolers with Antenatal Zika Virus Exposure Born in the United States
- Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine
- Novel fetal phenotype of TAF8 deficiency
- Pathogenic variants in <em>TMEM184B</em> cause a neurodevelopmental syndrome via alteration of metabolic signaling
- Pontocerebellar Hypoplasia Type 9: A Case Study Highlighting Distinctive Magnetic Resonance Imaging Features
- Pregnant women's perceptions on Information Sources on Zika Virus: a qualitative study
- Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities
- Protein Phosphatase 2ACalpha Regulates ATR-Mediated Endogenous DNA Damage Response Against Microcephaly
- Rare Case of <em>de Novo</em> 2p15 Microdeletion Syndrome with Deletion Covering <em>XPO1</em> and <em>USP34</em> Genes Diagnosed in a Child - A Case Report
- Role of cell metabolism in the pathophysiology of brain size-associated neurodevelopmental disorders
- Serious Concern of Congenital Zika Syndrome (CZS) in India: A Narrative Review
- Short- and long-term neurological outcomes of congenital cytomegalovirus infection
- Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
- Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the <em>DHCR7</em> Gene in a 73-Year-Old Woman: Report of the Oldest Patient
- Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration
- STAMBP is Required for Long-Term Maintenance of Neural Progenitor Cells Derived from hESCs
- Study of Akabane disease in an Iranian dairy herd: a re-emerging disease
- Teaching NeuroImage: Porencephaly and Hemorrhage in Infantile <em>COL4A2</em>-Related Cerebral Microangiopathy
- Testicular damage without clinical manifestations in BALB/c mice experimentally infected with Zika virus
- The DNA repair protein DNA-PKcs modulates synaptic plasticity via PSD-95 phosphorylation and stability
- The inoculum dose of Zika virus can affect the viral replication dynamics, cytokine responses and survival rate in immunocompromised AG129 mice
- The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns
- TRMT10A dysfunction perturbs codon translation of initiator methionine and glutamine and impairs brain functions in mice
- Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene
- Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a novel SLC13A5 variant
- Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
- Whole exome sequencing reveals a dual diagnosis of <em>BCAP31</em>-related syndrome and glutaric aciduria III
- Zbtb11 interacts with Otx2 and patterns the anterior neuroectoderm in Xenopus
- Zika virus infection: sexual transmission and implications for prevention
- Zika Virus Neuropathogenesis-Research and Understanding
- Zika virus vertical transmission induces neuroinflammation and synapse impairment in brain cells derived from children born with Congenital Zika Syndrome