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Molecular Genetics and Metabolism Reports|June 20, 2017
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasiaSimran Madan, Wei Liu, James T Lu, et al.Cardiovascular and Interventional Radiology|December 19, 2008
AMS INSIGHT--absorbable metal stent implantation for treatment of below-the-knee critical limb ischemia: 6-month analysisMarc Bosiers, Patrick Peeters, Olivier D'Archambeau, et al.Plos One|December 6, 2011
A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysisNicholas J Marini, Thomas J Hoffmann, Edward J Lammer, et al.Human Molecular Genetics|February 1, 1996
Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21U Schell, J Wienberg, A Köhler, et al.American Journal of Medical Genetics. Part A|April 14, 2007
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndromeSilke Schlaubitz, Svetlana A Yatsenko, Laurie D Smith, et al.Journal of Medical Genetics|September 18, 2007
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisationK Osoegawa, G M Vessere, K H Utami, et al.American Journal of Human Genetics|January 24, 2012
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromePhilippe M Campeau, Jaeseung C Kim, James T Lu, et al.Plos Genetics|April 9, 2016
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart DefectsJames R Priest, Kazutoyo Osoegawa, Nebil Mohammed, et al.European Journal of Vascular and Endovascular Surgery : the Official Journal of the European Society for Vascular Surgery|June 26, 2014
Endovascular repair of acute uncomplicated aortic type B dissection promotes aortic remodelling: 1 year results of the ADSORB trialJ Brunkwall, P Kasprzak, E Verhoeven, et al.Nature Genetics|September 10, 2002
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromesShinji Kondo, Brian C Schutte, Rebecca J Richardson, et al.Pageof 34