PRZEMYSLAW SZAFRANSKI to Adult
This is a "connection" page, showing publications PRZEMYSLAW SZAFRANSKI has written about Adult.
Connection Strength
0.088
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Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype. Hum Genet. 2019 Dec; 138(11-12):1301-1311.
Score: 0.028
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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015 Jul; 23(7):915-21.
Score: 0.020
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Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2014 Aug; 164A(8):2013-9.
Score: 0.019
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Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Mol Genet Genomic Med. 2019 03; 7(3):e549.
Score: 0.007
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Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. J Pediatr. 2016 Mar; 170:317-8.
Score: 0.005
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A de novo 1.58?Mb deletion, including MAP2K6 and mapping 1.28?Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. Am J Med Genet A. 2015 Aug; 167A(8):1842-50.
Score: 0.005
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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: 0.004