E-LIB Suche - Ergebnisse für: Ramos‐Arroyo, MA

1

Clinical and biochemical spectrum of mitochondrial complex ..:

Ramos‐Arroyo, MA ; Hualde, J ; Ayechu, A...
Clinical Genetics. 75 (2009) 6 - p. 585-587 , 2009

2

P256 – 1719 X-linked alpha thalassaemia-mental retardation ..:

Aguilera-Albesa, S ; Díez-Bayona, V ; Yoldi-Petri, ME...
European Journal of Paediatric Neurology. 17 (2013) - p. S123-S124 , 2013

Link: https://doi.org/10.1016/..

3

Huntington's disease in Venezuela: Neurologic features and ..:

Young, A B ; Shoulson, I ; Penney, JB...
Neurology. 76 (2011) 17 - p. 1484-1484 , 2011

Link: https://doi.org/10.1212/..

4

Identification of causative variants in TXNL4A in Burn-McKe..:

Goos, Jacqueline ; Swagemakers, Sigrid ; Twigg, SRF...
Goos , J , Swagemakers , S , Twigg , SRF , van Dooren , M , Hoogeboom , J , Beetz , C , Gunther , S , Magielsen , F , Ockeloen , C W , Ramos-Arroyo , MA , Pfundt , R , Yntema , HG , Spek , PJ , Stanier , P , Wieczorek , D , Wilkie , AOM , van den Ouweland , AMW , Mathijssen , IMJ & Hurst , JA 2017 , ' Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia ' , European Journal of Human Genetics , vol. 25 , no. 10 , pp. 1126-1133 . https://doi.org/10.1038/ejhg.2017.107. , 2017

Link: https://pure.eur.nl/en/p..

5

Widespread elevated concentrations of gaseous elemental mer..:

Loria, Ainsleigh ; Ramos-Arroyo, Yann Rene ; Rocha, Diana...
Science of The Total Environment. 843 (2022) - p. 157093 , 2022

Link: https://doi.org/10.1016/..