Cover Image

Homozygous Variant in NADSYN1 Causes Multiple Congenital Vertebral Malformation, With Neurodevelopmental Disorder

Fuente: Wiley Open Access

Saved in:

Bibliographic Details
Main Authors:	Zaheer Ahmed, Summan Thahiem, Allah Bakhsh, Muhammad Jawad Khan, Muhammad Umair, Hammal Khan
Format:	Artículo Open Access
Published:	Wiley 2026
Subjects:	International Journal of Developmental Neuroscience
Online Access:	Acceder al recurso
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

PGAP1 ‐Related Encephalopathy in an Infant With Neurodevelopmental Delay: Novel Variant and Review of Literature
by: Savas Baris, et al.
Published: (2025)

Novel HUWE1 ‐Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion
by: Yanyan Dai, et al.
Published: (2026)

A Novel Homozygous Frameshift Variant of SACS Gene in the Turkish Siblings With Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS)
by: Turgay Cokyaman, et al.
Published: (2025)

Hydrocortisone Attenuates the Development of Malformations of the Polymicrogyria Spectrum
by: Laura Maria Borges Savoldi, et al.
Published: (2025)

Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review
by: Qi Zhang, et al.
Published: (2025)

Prenatal Diagnosis of Radio‐Tartaglia Syndrome Caused by a Loss‐of‐Function Variant in SPEN in a Chinese Family
by: Yimin He, et al.
Published: (2026)

Catalase Gene Variants and Oxidative Stress in Autism Spectrum Disorder: A Northern Lebanon Cohort and Aripiprazole In Vitro Toxicity
by: Jeanne d'arc Bacha, et al.
Published: (2025)

Autism Spectrum Disorder Caused by a Novel De Novo SCN2A Mutation: A Case Report
by: Jinghan Gao, et al.
Published: (2026)

A Novel KMT2E Splicing Variant as a Cause of O'Donnell–Luria–Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype
by: Qianyun Cai, et al.
Published: (2025)

Effects of Valproic Acid and Maternal Deprivation on Autism‐Like Behaviours and Neurodevelopmental Outcomes in Female and Male Rats
by: Sara Sheibani Tezerji, et al.
Published: (2025)

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1
by: Ylenia Vaia, et al.
Published: (2026)

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre
by: Adilina Soares Romeiro Rodrigues, et al.
Published: (2026)

Long‐Term Clinical Characterization of ENTPD1 ‐Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review
by: Dilsu Dicle Erkan, et al.
Published: (2025)

Evaluation of Nucleated Red Blood Cell Levels in Children With Autism Spectrum Disorder: Relationship With Disorder Severity
by: Burçin Özlem Ateş, et al.
Published: (2025)

Expanding the Genotypic and Phenotypic Spectrum of AP5Z1 ‐Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review
by: Zeynep Esener, et al.
Published: (2026)

Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism
by: Fangfang Cao, et al.
Published: (2025)

Identification of a Novel ATP7A Variant in a Chinese Boy With Developmental Delay and Epilepsy
by: Yun Zhou, et al.
Published: (2025)

Microglia Regulatory and T‐Helper Cytokine Profiles in Autism Spectrum Disorder
by: Zehra Akan, et al.
Published: (2026)

Testing DAT1 and DRD4 Genes in Attention Deficit Hyperactivity Disorder Using a Wide Spectrum of Neurocognitive Batteries
by: Gül Ünsel‐Bolat, et al.
Published: (2026)

The Effects of Anxiety on Social Competence and Behavioural Adjustment in Preschoolers With Developmental Language Disorder
by: Orhan Kocaman, et al.
Published: (2025)

Functional Dysconnectivity of White Matter Networks Is Associated With Clinical Impairment in Autism Spectrum Disorder
by: Si‐Jing Wu, et al.
Published: (2026)

Exploring Theory of Mind in Specific Learning Disorder: Subtype Differences and the Role of ADHD Comorbidity
by: Hande Şirin, et al.
Published: (2026)

FGF‐21 and 8‐OHdG Biomarkers in Drug‐Naïve Children With Autism Spectrum Disorder
by: Samuel Baraúna, et al.
Published: (2025)

Contribution of an Ambidirectional Cohort Study on the Epidemiology of 186 Autism Spectrum Disorder Cases in an Algerian Population
by: Ourida Loumi, et al.
Published: (2025)

Associations Between PPAR‐γ and Executive Function in Adolescents With Major Depressive Disorder With and Without Psychotic Features
by: Ayça Karaca, et al.
Published: (2026)

The Sex‐ and Age‐Specific Association of AANAT Gene Polymorphisms With the Risk of Major Depressive Disorder in the Chinese Population
by: Qiuju Peng, et al.
Published: (2026)

A Longitudinal Study on Symptom Severity in Early Childhood of Bilingual and Monolingual Children With Autism Spectrum Disorder
by: Tayfun Kara, et al.
Published: (2025)

Relationship Between MOXO‐D‐CPT Results and Volumetric Brain MR in Attention Deficit Hyperactivity Disorder
by: Sultan Tarlacı, et al.
Published: (2026)

ADHD With and Without Comorbid Specific Learning Disorder: Comparisons of WISC‐R Profiles, Cognitive Disengagement and Psychiatric Symptoms
by: Seda Bozduman Çelebi, et al.
Published: (2026)

Modulation of Neuroinflammation and Nitrite Imbalance in the Hippocampus by Simvastatin: Therapeutic Potential in Maternal Separation‐Induced Autism Spectrum Disorder
by: Maryam Ghadiri, et al.
Published: (2026)

Evaluation of Orexin‐A, Adiponectin and Apelin‐13 Serum Levels in Children Diagnosed With Attention Deficit Hyperactivity Disorder
by: Serdar Avunduk, et al.
Published: (2025)

High‐Frequency Oscillations in Self‐Limited Epilepsy With Centrotemporal Spikes: Potential Predictors of Attention Deficit Hyperactivity Disorder?
by: Pinar Ozkan Kart, et al.
Published: (2025)

An Evaluation of Neuronal PARP‐1 and Caspase‐3 Levels in the Brain Tissue of Female Rats Exposed to Electromagnetic Fields at Different Gestational Stages
by: Kıymet Kübra Tüfekci, et al.
Published: (2025)

Early‐Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2 ‐Related Phenotypic Spectrum
by: Fabio Bruschi, et al.
Published: (2026)

RS‐fMRI Evidence of Left Frontal Lobe Developmental Deviation as a Candidate Core Pathology of Autism Spectrum Disorder
by: Tien‐Wen Lee
Published: (2026)

The Effect of Postexposure Sleep Deprivation on Anxiety‐Related Behaviours and Hippocampal Neuropathological Changes in a Rat Model of Posttraumatic Stress Disorder
by: Sebahattin Karabulut, et al.
Published: (2025)

Knowledge, Behaviours, and Attitudes of Family Physicians and Residents About Autism Spectrum Disorder in Turkey: A Descriptive Cross‐Sectional Study
by: Fatmanur Erzurumluoğlu, et al.
Published: (2025)

Examination of Prenatal, Perinatal, Postnatal and Parental Psychosocial Characteristics Associated With Autism Spectrum Disorder: A Cross‐Sectional Case–Control Study
by: Öznur Bilaç, et al.
Published: (2026)

Could Transforming Growth Factor Beta and Target MicroRNA Dysregulation Serve as Biomarkers of Symptom Severity in Patients With Obsessive‐Compulsive Disorder?
by: Sinan Altunoz, et al.
Published: (2025)

Electromagnetic Interaction Algorithm (EIA)‐Based Feature Selection With Adaptive Kernel Attention Network (AKAttNet) for Autism Spectrum Disorder Classification
by: Tathagat Banerjee
Published: (2025)