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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
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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From guideline to practice: three years of ICH S11 insights and recommendations
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Tanja Petrović: Utopia of the Uniform. Affective Afterlives of the Yugoslav People’s Army
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Maternal death audit in Rwanda 2009–2013: a nationwide facility-based retrospective cohort study
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INTERVIEW: KEES WAAIJMAN
Published 2020-06-01“… Francois Tolmie interviewed Kees Waaijman from the Titus Brandsma Institute, Radboud University, The Netherlands. …”
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Unexpected High Sensory Blockade during Continuous Spinal Anesthesiology (CSA) in an Elderly Patient
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Solifenacin in Multiple Sclerosis Patients with Overactive Bladder: A Prospective Study
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Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
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Identifying the deficits in cancer care for people with intellectual disabilities
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Black fungi and ants: a genomic comparison of species inhabiting carton nests versus domatia
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Endoscopic vacuum therapy in the upper gastrointestinal tract
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