DANIEL CALAME to Adolescent
This is a "connection" page, showing publications DANIEL CALAME has written about Adolescent.
Connection Strength
0.298
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De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndrome. Epilepsia. 2025 Sep; 66(9):e211-e218.
Score: 0.066
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2025 Jan; 27(1):101273.
Score: 0.062
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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation. Am J Hum Genet. 2025 May 01; 112(5):1139-1157.
Score: 0.016
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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. Am J Hum Genet. 2025 May 01; 112(5):1117-1138.
Score: 0.016
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Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders. Neurology. 2025 Apr 08; 104(7):e213429.
Score: 0.016
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Subacute Neuropathy Post-Liver Transplantation in Zellweger Spectrum Disorder: A Case Report. Am J Med Genet A. 2025 Apr; 197(4):e63941.
Score: 0.016
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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024 Nov 07; 111(11):2566-2581.
Score: 0.016
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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 07 11; 111(7):1352-1369.
Score: 0.015
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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. Am J Hum Genet. 2023 04 06; 110(4):663-680.
Score: 0.014
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005.
Score: 0.013
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833.
Score: 0.012
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Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle Nerve. 2021 03; 63(3):304-310.
Score: 0.012
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Degos disease: A radiological-pathological correlation of the neuroradiological aspects of the disease. Ann Diagn Pathol. 2020 Aug; 47:151545.
Score: 0.012
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
Score: 0.011