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Journal of Food Protection|May 21, 2004
In vitro inactivation of Escherichia coli O157:H7 in bovine rumen fluid by caprylic acidThirunavukkarasu Annamalai, Manoj Kumar Mohan Nair, Patrick Marek, et al.
Molecular Genetics & Genomic Medicine|June 25, 2020
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing lossThomas Nixon, Allan J Richards, Adrian Lomas, et al.
Hormone Research in Paediatrics|May 1, 2015
Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 DeletionSheau Chui Ho, Peter Clayton, Pradeep Vasudevan, et al.
American Journal of Medical Genetics. Part A|March 3, 2012
Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndromeRoksana Armani, Hayley Archer, Angus Clarke, et al.
JIMD Reports|July 3, 2025
The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare VariantNuria Puente-Ruiz, Saru Palaniappan, Alison Woodall, et al.
Genome Research|December 21, 2013
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disordersDaniel A King, Tomas W Fitzgerald, Ray Miller, et al.
Archives of Disease in Childhood|September 5, 2019
Exome sequencing in patients with antiepileptic drug exposure and complex phenotypesAdam Jackson, Heather Ward, Rebecca Louise Bromley, et al.
European Journal of Human Genetics : EJHG|June 5, 2008
Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language developmentHeather L Wilson, John A Crolla, Dena Walker, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) geneAude-Annick Suter, Peter Itin, Karl Heinimann, et al.
American Journal of Medical Genetics. Part A|May 25, 2021
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variantRebecca L Poole, Philippa D K Curry, Ruta Marcinkute, et al.
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