KEREN MACHOL to Humans
This is a "connection" page, showing publications KEREN MACHOL has written about Humans.
Connection Strength
0.164
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Transforming personalized chronic pain management with artificial intelligence: A commentary on the current landscape and future directions. Exp Neurol. 2024 Dec; 382:114980.
Score: 0.026
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Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704.
Score: 0.019
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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: 0.017
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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: 0.015
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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: 0.010
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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: 0.007
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Family Lore, a Variant of Uncertain Significance, and?CADASIL. Am J Med Genet C Semin Med Genet. 2024 Nov; 196(2-3):e32117.
Score: 0.007
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The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing. Am J Hum Genet. 2024 05 02; 111(5):841-862.
Score: 0.006
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Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87.
Score: 0.006
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Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities. EBioMedicine. 2024 Jan; 99:104940.
Score: 0.006
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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: 0.006
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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. Am J Hum Genet. 2023 08 03; 110(8):1356-1376.
Score: 0.006
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 06 13; 14(1):62.
Score: 0.006
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Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Am J Med Genet A. 2021 03; 185(3):836-840.
Score: 0.005
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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. Sci Adv. 2020 01; 6(4):eaax0021.
Score: 0.005
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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: 0.005
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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: 0.004
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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: 0.004
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Beh?et's disease and cerebral sinus vein thrombosis in children: a case study and review of the literature. Clin Exp Rheumatol. 2015 Nov-Dec; 33(6 Suppl 94):S163-8.
Score: 0.003
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The proto-oncogene ERG in megakaryoblastic leukemias. Cancer Res. 2005 Sep 01; 65(17):7596-602.
Score: 0.002