PRZEMYSLAW SZAFRANSKI to Child, Preschool
This is a "connection" page, showing publications PRZEMYSLAW SZAFRANSKI has written about Child, Preschool.
Connection Strength
0.142
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6q22.1 microdeletion and susceptibility to pediatric epilepsy. Eur J Hum Genet. 2015 Feb; 23(2):173-9.
Score: 0.039
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50.
Score: 0.029
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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: 0.013
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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 05; 101(4):503-515.
Score: 0.012
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386.
Score: 0.012
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Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. Pediatr Pulmonol. 2016 09; 51(9):921-7.
Score: 0.011
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Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. BMC Med Genet. 2014 Dec 04; 15:128.
Score: 0.010
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
Score: 0.008
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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: 0.008