KEREN MACHOL to Child
This is a "connection" page, showing publications KEREN MACHOL has written about Child.
Connection Strength
0.132
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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: 0.041
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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: 0.038
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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: 0.014
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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: 0.013
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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: 0.010
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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: 0.008
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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: 0.008