PAWEL STANKIEWICZ to Facies
This is a "connection" page, showing publications PAWEL STANKIEWICZ has written about Facies.
Connection Strength
0.866
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Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome. Clin Genet. 2019 04; 95(4):534-536.
Score: 0.563
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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: 0.124
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Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Am J Med Genet A. 2021 05; 185(5):1366-1378.
Score: 0.041
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Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. Orphanet J Rare Dis. 2016 05 14; 11(1):62.
Score: 0.029
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Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B. Am J Med Genet A. 2015 Feb; 167A(2):445-9.
Score: 0.027
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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60.
Score: 0.025
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Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. Hum Mutat. 2013 Oct; 34(10):1415-23.
Score: 0.024
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20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75.
Score: 0.017
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A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. Am J Med Genet A. 2007 Aug 15; 143A(16):1885-9.
Score: 0.016