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    X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability by Verhoeven WM, Pfundt R, Engelke UF, Kluijtmans LA, Egger JI

    Published 2025-01-01
    “…Willem MA Verhoeven,1– 3 Rolph Pfundt,4,5 Udo FH Engelke,6 Leo AJ Kluijtmans,6 Jos IM Egger3– 5 1Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands; 2Centre for Consultation and Expertise, Utrecht, The Netherlands; 3Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; 4Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; 5Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; 6Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The NetherlandsCorrespondence: Willem MA Verhoeven, Email wmaverhoeven@planet.nlIntroduction: Levocarnitine is essential for brain functioning and fatty acid metabolism and stems largely from dietary sources. …”
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  10. 5290

    Fetal intracranial hemorrhage in second trimester: An ominous finding even after a normal array by Yu-Hong Long, Si-Qi Wu, Xin Wang, Li-Ping Wu, Yi-Min Xiong, Xin Yang, Feng-Xiang Wei

    Published 2025-01-01
    “…Objective: This is a case report of a COL4A1 gene mutation which was confirmed by further genetic testing following anomalies observed in prenatal ultrasound and fetal brain magnetic resonance imaging (MRI). …”
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