KEVIN GLINTON to Humans
This is a "connection" page, showing publications KEVIN GLINTON has written about Humans.
Connection Strength
0.175
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Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn. Mol Genet Metab. 2023 11; 140(3):107699.
Score: 0.023
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An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes. Genet Med. 2022 03; 24(3):722-728.
Score: 0.021
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Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Am J Med Genet A. 2021 05; 185(5):1366-1378.
Score: 0.020
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An 8-Year-Old Male With Fever of Unknown Origin. Clin Pediatr (Phila). 2018 09; 57(10):1239-1242.
Score: 0.016
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Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Mol Genet Metab. 2018 03; 123(3):309-316.
Score: 0.016
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Failure to Thrive, Metabolic Acidosis, and Diarrhea in a 7-Week-Old Infant. Pediatrics. 2024 Sep 01; 154(3).
Score: 0.006
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Epilepsy as a Novel Phenotype of BPTF-Related Disorders. Pediatr Neurol. 2024 Sep; 158:17-25.
Score: 0.006
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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 04 04; 111(4):742-760.
Score: 0.006
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Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
Score: 0.006
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KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine. Ann Clin Transl Neurol. 2023 04; 10(4):656-663.
Score: 0.006
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Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genet Med. 2023 04; 25(4):100352.
Score: 0.006
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Advancements in therapeutics for inborn errors of metabolism. Curr Opin Pediatr. 2022 12 01; 34(6):559-564.
Score: 0.005
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Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises. Heart Rhythm. 2022 10; 19(10):1673-1681.
Score: 0.005
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Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA Netw Open. 2021 07 01; 4(7):e2114155.
Score: 0.005
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Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases. Kidney360. 2021 01 28; 2(1):90-104.
Score: 0.005
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Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report. Am J Med Genet A. 2020 11; 182(11):2751-2754.
Score: 0.005
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Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis. Genet Med. 2020 09; 22(9):1560-1566.
Score: 0.005
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A Somnolent Neonate With Hypothermia and Posturing. Clin Pediatr (Phila). 2020 07; 59(8):841-843.
Score: 0.005
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Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Am J Med Genet A. 2020 04; 182(4):755-761.
Score: 0.005
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Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 07; 179(7):1376-1382.
Score: 0.004