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Human Mutation|March 14, 2013
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndromeDanielle Ingham, Christine P Diggle, Ian Berry, et al.
Xenobiotica; the Fate of Foreign Compounds in Biological Systems|July 24, 2001
Metabolism of 2,5-bis(trifluoromethyl)-7-benzyloxy-4-trifluoromethylcoumarin by human hepatic CYP isoforms: evidence for selectivity towards CYP3A4A B Renwick, D F Lewis, S Fulford, et al.
Nucleic Acids Research|November 26, 1999
A multiple-capillary electrophoresis system for small-scale DNA sequencing and analysisJ Zhang, K O Voss, D F Shaw, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndromeChristopher M Watson, Laura A Crinnion, Antigoni Tzika, et al.
Environment International|August 10, 2023
Chemical characteristics of wildfire ash across the globe and their environmental and socio-economic implicationsC Sánchez-García, C Santín, J Neris, et al.
Xenobiotica; the Fate of Foreign Compounds in Biological Systems|August 22, 2001
Carbamazepine: a 'blind' assessment of CVP-associated metabolism and interactions in human liver-derived in vitro systemsO Pelkonen, P Myllynen, P Taavitsainen, et al.
Journal of Medical Genetics|October 2, 2015
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndromeRonja Hollstein, David A Parry, Lisa Nalbach, et al.
American Journal of Human Genetics|September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyteDavid A Parry, Clare V Logan, Bruce E Hayward, et al.
American Journal of Human Genetics|December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genesErica L Harris, Vincent Roy, Martin Montagne, et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals|April 17, 2001
An assessment of human liver-derived in vitro systems to predict the in vivo metabolism and clearance of almokalantT B Andersson, H Sjöberg, K J Hoffmann, et al.
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