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Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Correa Brito L, Keselman A, Villegas F, Scaglia P, Esnaola Azcoiti M, Castro S, Sanguineti N, Izquierdo A, Maier M, Bergadá I, Arberas C, Rey RA, Ropelato MG. Correa Brito L, et al. Among authors: rey ra. Front Genet. 2024 Mar 11;15:1354715. doi: 10.3389/fgene.2024.1354715. eCollection 2024. Front Genet. 2024. PMID: 38528912 Free PMC article.
Myocardial protection: comparing histological effects of single-dose cardioplegic solutions-study protocol for a secondary analysis of the CARDIOPLEGIA trial.
Lira KB, Delvaux RS, Spadini FA, Hauschild LH, Ceron RO, Anschau F, Kopittke L, Rode J, Rey RAW, Wittke EI, Rombaldi AR, Cambruzzi E, Lopes ERC, Almeida AS. Lira KB, et al. Among authors: rey raw. J Thorac Dis. 2024 Feb 29;16(2):1480-1487. doi: 10.21037/jtd-23-1442. Epub 2024 Feb 20. J Thorac Dis. 2024. PMID: 38505015 Free PMC article.
Assessment of testicular function in boys and adolescents.
Lopez Dacal J, Castro S, Suco S, Correa Brito L, Grinspon RP, Rey RA. Lopez Dacal J, et al. Among authors: rey ra. Clin Endocrinol (Oxf). 2023 Oct 10. doi: 10.1111/cen.14979. Online ahead of print. Clin Endocrinol (Oxf). 2023. PMID: 37814597 Review.
Nathalie Josso, MD, PhD, 1934-2022.
Rey RA, Picard JY, Rappaport R. Rey RA, et al. Horm Res Paediatr. 2024;97(2):211-212. doi: 10.1159/000531768. Epub 2023 Aug 2. Horm Res Paediatr. 2024. PMID: 37531939 Free article. No abstract available.
Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development.
Correa Brito L, Grinspon RP, Lopez Dacal J, Scaglia P, Esnaola Azcoiti M, Izquierdo A, Ropelato MG, Rey RA. Correa Brito L, et al. Among authors: rey ra. J Pers Med. 2023 Jul 19;13(7):1158. doi: 10.3390/jpm13071158. J Pers Med. 2023. PMID: 37511771 Free PMC article.
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S. Duckett K, et al. Among authors: rey ra. J Clin Endocrinol Metab. 2023 Nov 17;108(12):e1580-e1587. doi: 10.1210/clinem/dgad373. J Clin Endocrinol Metab. 2023. PMID: 37339320 Free PMC article.
111 results