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American Journal of Human Genetics|August 26, 2000
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophyA Maugeri, B J Klevering, K Rohrschneider, et al.
Plos Genetics|March 22, 2013
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndromeTom Stiff, Meryem Alagoz, Diana Alcantara, et al.
Fortschritte Der Medizin|June 10, 1989
[Treatment of acute stomach ulcer with H2 receptor antagonists. A direct therapy comparison with 300 mg nizatidine nightly and 2 times 150 mg nizatidine with twice daily 150 mg ranitidine]R Arnold, P Beckenbach, H Bock, et al.
Genomics|June 15, 2005
Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouseBert van der Zwaag, J Peter H Burbach, Curt Scharfe, et al.
Human Genetics|March 10, 1999
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22A I den Hollander, S D van der Velde-Visser, A J Pinckers, et al.
Birth Defects Research. Part C, Embryo Today : Reviews|December 30, 2014
Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic reviewCharlotte H W Wijers, Iris A L M van Rooij, Carlo L M Marcelis, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|September 19, 2006
Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instabilityCarolien M Kets, Nicoline Hoogerbrugge, Danielle Bodmer, et al.
Intensive Care Medicine|July 11, 2002
Aborted sudden death in a patient with a structurally normal heart: the Brugada syndromeD Scherr, G Brunner, P Kaufmann, et al.
Familial Cancer|February 8, 2012
Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist's initiativeK M Landsbergen, J B Prins, H G Brunner, et al.
Journal of Inherited Metabolic Disease|May 13, 2022
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disordersBrechtje Hoegen, Juliet E Hampstead, Udo F H Engelke, et al.
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