CARLOS BACINO to DNA-Binding Proteins
This is a "connection" page, showing publications CARLOS BACINO has written about DNA-Binding Proteins.
Connection Strength
0.481
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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 01; 194(1):17-30.
Score: 0.121
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.
Score: 0.092
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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
Score: 0.074
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Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010 Dec 10; 87(6):857-65.
Score: 0.050
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.035
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Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene. N Engl J Med. 2024 Oct 24; 391(16):1511-1518.
Score: 0.033
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EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics. 2001 Jul; 3(3):153-7.
Score: 0.026
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Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. Am J Med Genet. 1999 Apr 23; 83(5):388-91.
Score: 0.022
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.019
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SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
Score: 0.008