MIR REZA BEKHEIRNIA to Humans
This is a "connection" page, showing publications MIR REZA BEKHEIRNIA has written about Humans.
Connection Strength
0.292
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Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic. Am J Med Genet C Semin Med Genet. 2022 09; 190(3):302-308.
Score: 0.021
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Introduction to special issue for kidney genetics. Am J Med Genet C Semin Med Genet. 2022 09; 190(3):261.
Score: 0.021
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Variants in genes coding for collagen type IV a-chains are frequent causes of persistent, isolated hematuria during childhood. Pediatr Nephrol. 2023 03; 38(3):687-695.
Score: 0.020
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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: 0.018
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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: 0.017
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Characterization of the renal phenotype in RMND1-related mitochondrial disease. Mol Genet Genomic Med. 2019 12; 7(12):e973.
Score: 0.017
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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764.
Score: 0.017
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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420.
Score: 0.014
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POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene. 2012 May 10; 499(1):209-12.
Score: 0.010
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Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010 May; 21(5):876-83.
Score: 0.009
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Pathophysiology of water and sodium retention: edematous states with normal kidney function. Curr Opin Pharmacol. 2006 Apr; 6(2):202-7.
Score: 0.007
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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: 0.006
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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: 0.006
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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: 0.006
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Evaluation for genetic disease in kidney transplant candidates: A practice resource. Am J Transplant. 2025 Feb; 25(2):237-249.
Score: 0.006
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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: 0.006
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Serum zinc and its relation to bone mineral density in beta-thalassemic adolescents. Biol Trace Elem Res. 2004 Mar; 97(3):215-24.
Score: 0.006
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118.
Score: 0.006
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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: 0.006
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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: 0.005
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Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. J Am Soc Nephrol. 2023 02 01; 34(2):273-290.
Score: 0.005
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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: 0.005
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Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. J Child Neurol. 2021 09; 36(10):841-852.
Score: 0.005
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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: 0.005
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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: 0.005
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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: 0.005
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.004
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Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. Am J Med Genet A. 2019 05; 179(5):803-807.
Score: 0.004
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Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report. BMC Nephrol. 2017 Jul 18; 18(1):243.
Score: 0.004
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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: 0.003
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Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome. Kidney Int. 2005 Nov; 68(5):2218-24.
Score: 0.003
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.003
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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: 0.003
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Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet. 2011 Sep 11; 43(10):996-1000.
Score: 0.002
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SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Am J Med Genet A. 2011 May; 155A(5):1165-9.
Score: 0.002
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Renal ultrasonographic evaluation in children at risk of autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2010 Jul; 56(1):50-6.
Score: 0.002
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Variation in age at ESRD in autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008 Feb; 51(2):173-83.
Score: 0.002
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Bone mineral density in Iranian adolescents and young adults with beta-thalassemia major. Pediatr Hematol Oncol. 2007 Oct-Nov; 24(7):469-79.
Score: 0.002
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Relationship between urinary albumin excretion and left ventricular mass with mortality in patients with type 2 diabetes. Clin J Am Soc Nephrol. 2006 Nov; 1(6):1187-90.
Score: 0.002
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The role of hemodialysis machines dedication in reducing Hepatitis C transmission in the dialysis setting in Iran: a multicenter prospective interventional study. BMC Nephrol. 2004 Oct 07; 5:13.
Score: 0.001
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Bone mineral density is related to blood pressure in men. Am J Hum Biol. 2004 Mar-Apr; 16(2):168-71.
Score: 0.001