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Neuroimage. Clinical|September 20, 2021
Disrupted relationship between blood glucose and brain dopamine D2/3 receptor binding in patients with first-episode schizophreniaU Sauerzopf, A Weidenauer, I Dajic, et al.
Neuroimage|January 26, 2017
Simple and rapid quantification of serotonin transporter binding using [11C]DASB bolus plus constant infusionG Gryglewski, L Rischka, C Philippe, et al.
Clinical Genetics|February 21, 2018
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid featuresS Moutton, A-L Bruel, M Assoum, et al.
Journal of Neuro-Oncology|December 4, 2017
Diffuse intrinsic pontine gliomas (DIPG) at recurrence: is there a window to test new therapies in some patients?M J Lobon-Iglesias, G Giraud, D Castel, et al.
American Journal of Medical Genetics. Part A|September 12, 2023
Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndromeE Viora-Dupont, A Denommé-Pichon, M Chevarin, et al.
Clinical Genetics|April 11, 2016
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangiaJ Thevenon, L Duplomb, S Phadke, et al.
European Journal of Medical Genetics|August 31, 2018
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literatureJ Delanne, S Nambot, A Chassagne, et al.
Journal of Medical Genetics|September 5, 2006
The contribution of germline rearrangements to the spectrum of BRCA2 mutationsF Casilli, I Tournier, O M Sinilnikova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathyF Tran Mau-Them, L Guibaud, L Duplomb, et al.
Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.
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