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[CHARGE syndrome].
Lobete Prieto CJ, Llano Rivas I, Fernández Toral J, Madero Barrajón P. Lobete Prieto CJ, et al. Arch Argent Pediatr. 2010 Feb;108(1):e9-e12. doi: 10.1590/S0325-00752010000100016. Arch Argent Pediatr. 2010. PMID: 20204230 Free article. Spanish.
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE. Sentchordi-Montané L, et al. J Clin Endocrinol Metab. 2020 Aug 1;105(8):dgaa218. doi: 10.1210/clinem/dgaa218. J Clin Endocrinol Metab. 2020. PMID: 32311039
[Atypical onset of incontinentia pigmenti].
Málaga Diéguez I, Bernardo Fernández B, Blanco Lago R, Llano Rivas I, Fernández Toral J. Málaga Diéguez I, et al. An Pediatr (Barc). 2010 Jan;72(1):82-3. doi: 10.1016/j.anpedi.2009.09.016. Epub 2009 Dec 1. An Pediatr (Barc). 2010. PMID: 19955030 Free article. Spanish. No abstract available.
Prenatal and foetal autopsy findings in glutaric aciduria type II.
Martinez-Aracil A, Ruiz-Onandi R, Perez-Rodriguez A, Sagasta A, Llano-Rivas I, Perez de Nanclares G. Martinez-Aracil A, et al. Birth Defects Res. 2020 Nov;112(19):1738-1749. doi: 10.1002/bdr2.1805. Epub 2020 Sep 22. Birth Defects Res. 2020. PMID: 32959991
27 results