MIR REZA BEKHEIRNIA to Phenotype
This is a "connection" page, showing publications MIR REZA BEKHEIRNIA has written about Phenotype.
Connection Strength
0.589
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Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010 May; 21(5):876-83.
Score: 0.162
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Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report. Am J Med Genet A. 2020 03; 182(3):527-531.
Score: 0.079
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Characterization of the renal phenotype in RMND1-related mitochondrial disease. Mol Genet Genomic Med. 2019 12; 7(12):e973.
Score: 0.078
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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: 0.029
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Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies. HGG Adv. 2025 Jul 10; 6(3):100426.
Score: 0.029
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Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses. Am J Med Genet A. 2025 Jul; 197(7):e64036.
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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De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy. Genet Med. 2023 07; 25(7):100859.
Score: 0.025
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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: 0.024
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Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
Score: 0.022
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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clin Genet. 2021 04; 99(4):547-557.
Score: 0.021
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Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. Mol Genet Genomic Med. 2021 01; 9(1):e1542.
Score: 0.021
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De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Cold Spring Harb Mol Case Stud. 2016 11; 2(6):a001172.
Score: 0.016
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.014
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
Score: 0.013