OpenAlex topic
Genetics and Neurodevelopmental Disorders
This page lists works and academicians tagged with an OpenAlex topic. It is not a YÖKSİS primary or secondary field.
OpenAlex 1,814 works 83 author topics
Works
1,814 works
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We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show…
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Hippocampal sclerosis (HS) is the most frequent histopathology encountered in patients with drug-resistant temporal lobe epilepsy (TLE). Over the past decades, various attempts have been made to classify specific patterns of hippocampal neuronal cell loss and correlate subtypes with postsurgical outcome. However, no i…
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In development, timing is of the utmost importance, and the timing of developmental processes often changes as organisms evolve. In human evolution, developmental retardation, or neoteny, has been proposed as a possible mechanism that contributed to the rise of many human-specific features, including an increase in br…
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Copy number variations (CNVs) account for a substantial proportion of human genomic variation, and have been shown to cause neurodevelopmental disorders. We sought to determine the relevance of CNVs to the aetiology of schizophrenia (SZ). Whole-genome, high-resolution, tiling path BAC array comparative genomic hybridi…
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Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder 2016YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.6%
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Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder 2016YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.7%
No abstract yet.
Academicians
83 academicians
- BÜLENT KARA 24 author topics
- GÜLEN EDA ÜTİNE 22 author topics
- BERRİN TUNCA 21 author topics
- GÖZDE YEŞİL SAYIN 18 author topics
- HİLMİ BOLAT 18 author topics
- DİDEM BEHİCE ÖZTOP 17 author topics
- GÜL ÜNSEL BOLAT 15 author topics
- MUHSİN ÖZGÜR ÇOĞULU 15 author topics
- AHMET OKAY ÇAĞLAYAN 13 author topics
- DİLEK YALNIZOĞLU 13 author topics
- DİLEK AKTAŞ 12 author topics
- FATMA SILAN 12 author topics