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Human Mutation|May 3, 2013
PhenoTips: patient phenotyping software for clinical and research useMarta Girdea, Sergiu Dumitriu, Marc Fiume, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 1, 1993
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndromeD A Pillers, W K Seltzer, B R Powell, et al.
Human Molecular Genetics|December 26, 2001
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1R Weksberg, J Nishikawa, O Caluseriu, et al.
Journal of General Internal Medicine|March 11, 2014
Exploration of an automated approach for receiving patient feedback after outpatient acute care visitsEta S Berner, Midge N Ray, Anantachai Panjamapirom, et al.
Clinical Genetics|August 8, 2008
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in NewfoundlandS J Moore, D J Buckley, A MacMillan, et al.
Annals of Clinical and Translational Neurology|January 20, 2016
RNAseq analysis for the diagnosis of muscular dystrophyHernan Gonorazky, Minggao Liang, Beryl Cummings, et al.
Human Molecular Genetics|October 11, 2018
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophyGraeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, et al.
Stem Cells (Dayton, Ohio)|August 16, 2012
Activin and BMP4 synergistically promote formation of definitive endoderm in human embryonic stem cellsAdrian K K Teo, Yusuf Ali, Kee Yew Wong, et al.
Stem Cell Reports|January 11, 2019
GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas FormationCrystal Y Chia, Pedro Madrigal, Simon L I J Denil, et al.
American Journal of Medical Genetics. Part A|June 14, 2006
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologiesCheryl Shuman, Adam C Smith, Leslie Steele, et al.
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