CHARUL GIJAVANEKAR to Phenotype
This is a "connection" page, showing publications CHARUL GIJAVANEKAR has written about Phenotype.
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0.202
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A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder. Am J Med Genet A. 2025 Nov; 197(11):e64177.
Score: 0.030
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Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency. Am J Med Genet A. 2025 Jun; 197(6):e64014.
Score: 0.029
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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: 0.027
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. Am J Hum Genet. 2023 06 01; 110(6):963-978.
Score: 0.025
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Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency. Am J Med Genet A. 2023 05; 191(5):1366-1372.
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
Score: 0.024
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A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Am J Med Genet A. 2022 01; 188(1):259-268.
Score: 0.023
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.019