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The Journal of Clinical Endocrinology and Metabolism|December 1, 1995
A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center studyJ D Cogan, B Ramel, M Lehto, et al.
BMJ Open Sport & Exercise Medicine|October 10, 2025
Update on sport mental health assessment tool-1 false negative rates from the 2024 Paris Olympic and Paralympic GamesTravis Anderson, Jessica Bartley, Angel Brutus, et al.
American Journal of Medical Genetics. Part A|January 18, 2018
Phenotypic heterogeneity of ZMPSTE24 deficiencyThomas A Cassini, Amy K Robertson, Anna G Bican, et al.
Bioorganic & Medicinal Chemistry|March 23, 2005
Synthesis and biological evaluation of penam sulfones as inhibitors of beta-lactamasesOludotun A Phillips, Andhe V N Reddy, Eduardo L Setti, et al.
American Journal of Medical Genetics. Part A|August 25, 2023
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiencyYutaka Furuta, Erica T Nelson, Serena M Neumann, et al.
Experimental Eye Research|March 1, 1995
Nuclear light scattering, disulfide formation and membrane damage in lenses of older guinea pigs treated with hyperbaric oxygenF J Giblin, V A Padgaonkar, V R Leverenz, et al.
Pulmonary Circulation|February 21, 2025
RNA-Seq and ChIP-Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and PericytesYing Cai, Ling Yan, Joy D Cogan, et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas|August 12, 1998
Clinical and molecular characterization of Brazilian patients with growth hormone gene deletionsI J Arnhold, M G Osorio, S B Oliveira, et al.
American Journal of Ophthalmology|August 8, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic DilemmasRory J Tinker, Logan M Smith, Lisa A Bastarache, et al.
The Journal of Clinical Endocrinology and Metabolism|September 24, 1998
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiencyJ D Cogan, W Wu, J A Phillips, et al.
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