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Down's syndrome: altered chondrogenesis in fetal rib.
Garcia-Ramírez M, Toran N, Carrascosa A, Audi L. Garcia-Ramírez M, et al. Among authors: audi l. Pediatr Res. 1998 Jul;44(1):93-8. doi: 10.1203/00006450-199807000-00015. Pediatr Res. 1998. PMID: 9667377
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
Camats N, Fernández-Cancio M, Audí L, Mullis PE, Moreno F, González Casado I, López-Siguero JP, Corripio R, Bermúdez de la Vega JA, Blanco JA, Flück CE. Camats N, et al. Among authors: audi l. PLoS One. 2015 Nov 16;10(11):e0142831. doi: 10.1371/journal.pone.0142831. eCollection 2015. PLoS One. 2015. PMID: 26580071 Free PMC article.
A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation.
Hornig NC, de Beaufort C, Denzer F, Cools M, Wabitsch M, Ukat M, Kulle AE, Schweikert HU, Werner R, Hiort O, Audi L, Siebert R, Ammerpohl O, Holterhus PM. Hornig NC, et al. Among authors: audi l. PLoS One. 2016 Apr 25;11(4):e0154158. doi: 10.1371/journal.pone.0154158. eCollection 2016. PLoS One. 2016. PMID: 27110943 Free PMC article.
Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.
Hornig NC, Ukat M, Schweikert HU, Hiort O, Werner R, Drop SL, Cools M, Hughes IA, Audi L, Ahmed SF, Demiri J, Rodens P, Worch L, Wehner G, Kulle AE, Dunstheimer D, Müller-Roßberg E, Reinehr T, Hadidi AT, Eckstein AK, van der Horst C, Seif C, Siebert R, Ammerpohl O, Holterhus PM. Hornig NC, et al. Among authors: audi l. J Clin Endocrinol Metab. 2016 Nov;101(11):4468-4477. doi: 10.1210/jc.2016-1990. Epub 2016 Sep 1. J Clin Endocrinol Metab. 2016. PMID: 27583472 Free PMC article.
141 results