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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2022
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited settingAlina I Esterhuizen, Nicki Tiffin, Gillian Riordan, et al.
Annals of Plastic Surgery|May 10, 2013
BMP-2-regenerated calvarial bone: a biomechanical appraisal in a large animal modelJames Cray, Sarah E Henderson, Darren M Smith, et al.
Arthritis and Rheumatism|January 1, 2009
Blocking vascular endothelial growth factor with soluble Flt-1 improves the chondrogenic potential of mouse skeletal muscle-derived stem cellsSeiji Kubo, Gregory M Cooper, Tomoyuki Matsumoto, et al.
Plos Genetics|May 27, 2010
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesHeather C Mefford, Hiltrud Muhle, Philipp Ostertag, et al.
Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Human Mutation|September 13, 2013
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effectsDong-Hui Chen, Alipi Naydenov, Jacqueline L Blankman, et al.
Epilepsia|February 11, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signatureChristy W LaFlamme, Karim Karimi, Cassandra Rastin, et al.
European Journal of Medical Genetics|September 2, 2015
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similaritiesAnke Van Dijck, Ilse M van der Werf, Edwin Reyniers, et al.
EMBO Molecular Medicine|November 29, 2015
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyBorislav Dejanovic, Tania Djémié, Nora Grünewald, et al.
Epilepsia|November 25, 2017
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45Gemma L Carvill, Aijie Liu, Simone Mandelstam, et al.
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