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[Recommendations for the diagnosis and follow up of the foetus and newborn child born to mothers with autoimmune thyroid disease].
An Pediatr (Engl Ed). 2018 Oct;89(4):254.e1-254.e7. doi: 10.1016/j.anpedi.2018.07.006. Epub 2018 Sep 1.
An Pediatr (Engl Ed). 2018.
PMID: 30177500
Free article.
Spanish.
Co-inheritance of HNF1a and GCK mutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing.
López-Garrido MP, Herranz-Antolín S, Alija-Merillas MJ, Giralt P, Escribano J.
López-Garrido MP, et al. Among authors: alija merillas mj.
Clin Endocrinol (Oxf). 2013 Sep;79(3):342-7. doi: 10.1111/cen.12050. Epub 2013 Apr 1.
Clin Endocrinol (Oxf). 2013.
PMID: 23009393
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A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P.
Tenorio J, et al.
Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.
Hum Mutat. 2014.
PMID: 25196541
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