LORRAINE POTOCKI to Brain
This is a "connection" page, showing publications LORRAINE POTOCKI has written about Brain.
Connection Strength
0.171
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Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS. Am J Med Genet A. 2020 09; 182(9):2077-2084.
Score: 0.069
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Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis. J Child Neurol. 2008 Jan; 23(1):73-8.
Score: 0.029
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Central nervous system malformations in oral-facial-digital syndrome, type 1. Am J Med Genet A. 2005 Jul 15; 136(2):218.
Score: 0.024
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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nat Commun. 2024 01 08; 15(1):365.
Score: 0.022
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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. Sci Adv. 2020 01; 6(4):eaax0021.
Score: 0.017
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210.
Score: 0.011