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Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, et al.
Magnetic Resonance Imaging|December 5, 1998
Absolute metabolite quantification by in vivo NMR spectroscopy: II. A multicentre trial of protocols for in vivo localised proton studies of human brainS F Keevil, B Barbiroli, J C Brooks, et al.
International Journal of Cancer|January 30, 2019
TRIM28 haploinsufficiency predisposes to Wilms tumorIllja J Diets, Juliane Hoyer, Arif B Ekici, et al.
American Journal of Human Genetics|February 13, 2018
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris SyndromeGeorgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, et al.
Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.
HGG Advances|August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome functionGiovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
American Journal of Human Genetics|August 8, 2020
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin DiseasesStefan Haskamp, Heiko Bruns, Madelaine Hahn, et al.
Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
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