JIMMY HOLDER JR to Child, Preschool
This is a "connection" page, showing publications JIMMY HOLDER JR has written about Child, Preschool.
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0.289
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Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression. J Neurodev Disord. 2019 08 08; 11(1):18.
Score: 0.051
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The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations. Epilepsia. 2016 Oct; 57(10):1651-1659.
Score: 0.041
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TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Neurology. 2016 07 05; 87(1):77-85.
Score: 0.041
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Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2737-41.
Score: 0.038
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A child with an inherited 0.31?Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1962-6.
Score: 0.030
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Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. J Neurodev Disord. 2024 May 10; 16(1):25.
Score: 0.018
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 03 04; 108(3):502-516.
Score: 0.014
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Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum Mol Genet. 2000 Jan 01; 9(1):101-8.
Score: 0.013
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
Score: 0.012
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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. Mol Autism. 2018; 9:31.
Score: 0.012
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
Score: 0.011
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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60.
Score: 0.009