KEREN MACHOL to Child, Preschool
This is a "connection" page, showing publications KEREN MACHOL has written about Child, Preschool.
Connection Strength
0.201
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Am J Hum Genet. 2019 01 03; 104(1):164-178.
Score: 0.052
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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 Mar; 173(3):733-739.
Score: 0.045
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Keeping the heart in mind when managing hemolytic: uremic syndrome. Isr Med Assoc J. 2011 Jul; 13(7):446-7.
Score: 0.031
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Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes. Mol Genet Metab. 2025 Mar; 144(3):109009.
Score: 0.020
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Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors. Am J Med Genet A. 2024 03; 194(3):e63461.
Score: 0.018
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.
Score: 0.014
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De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. Am J Hum Genet. 2016 Oct 06; 99(4):934-941.
Score: 0.011
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Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. Am J Med Genet A. 2016 10; 170(10):2711-8.
Score: 0.011