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American Journal of Human Genetics|August 3, 2010
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault SyndromeSarah B Pierce, Tom Walsh, Karen M Chisholm, et al.
Fetal and Pediatric Pathology|December 13, 2006
Mortality and pathological findings in C (Opitz trigonocephaly) syndromeJohn M Opitz, Angelica R Putnam, Jessica M Comstock, et al.
American Journal of Medical Genetics. Part A|October 30, 2016
Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysisErik D Christensen, Justin Berger, Mouied M Alashari, et al.
Scientific Reports|October 15, 2017
Pharmacological HIF-inhibition attenuates postoperative adhesion formationMoritz J Strowitzki, Alina S Ritter, Praveen Radhakrishnan, et al.
Elife|September 2, 2020
Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impactMelissa A Chiasson, Nathan J Rollins, Jason J Stephany, et al.
American Journal of Medical Genetics. Part A|January 16, 2016
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromesRoser Urreizti, Neus Roca-Ayats, Judith Trepat, et al.
American Journal of Medical Genetics. Part A|October 7, 2005
XK-aprosencephaly and related entitiesG Renzetti, A Villani, C Bizzarri, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overloadKathryn J Swoboda, Rebecca L Margraf, John C Carey, et al.
American Journal of Medical Genetics|July 31, 2001
Meier-Gorlin syndrome: report of eight additional cases and reviewE M Bongers, J M Opitz, A Fryer, et al.
Molecular Cell|April 9, 2019
A Combined Approach Reveals a Regulatory Mechanism Coupling Src's Kinase Activity, Localization, and Phosphotransferase-Independent FunctionsEthan Ahler, Ames C Register, Sujata Chakraborty, et al.
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