ProfileOfResearchers

TÃTULO: Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients Full Text
AUTORES: Mari Anne Vals; Angel Ashikov; Pilvi Ilves; Dagmar Loorits; Qiang Zeng; Rita Barone; Karin Huijben; Jolanta Sykut Cegielska; Luisa Diogo; Abdallah F Elias; Robert S Greenwood; Stephanie Grunewald; Peter M van Hasselt; Jiddeke M van de Kamp; Grazia Mancini; Agnieszka Okninska; Sander Pajusalu; Pauline M Rudd; Cecilie F Rustad; Ramona Salvarinova; Bert B A de Vries; Nicole I Wolf; Bobby G Ng; Hudson H Freeze; Dirk J Lefeber; Katrin Ounap; ...Mais
PUBLICAÇÃO: 2019, FONTE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, NÚMERO: 3

INDEXADO EM:

Scopus

WOS

TÃTULO: Novel (ovario) leukodystrophy related to AARS2 mutations
AUTORES: Cristina Dallabona; Daria Diodato; Sietske H Kevelam; Tobias B Haack; Lee Jun Wong; Gajja S Salomons; Enrico Baruffini; Laura Melchionda; Caterina Mariotti; Tim M Strom; Thomas Meitinger; Holger Prokisch; Kim Chapman; Alison Colley; Helena Rocha; Katrin Ounap; Raphael Schiffmann; Ettore Salsano; Mario Savoiardo; Eline M Hamilton; Truus E M Abbink; Nicole I Wolf; Ileana Ferrero; Costanza Lamperti; Massimo Zeviani; Adeline Vanderver; Daniele Ghezzi; Marjo S van der Knaap; ...Mais
PUBLICAÇÃO: 2014, FONTE: NEUROLOGY, VOLUME: 82, NÚMERO: 23

INDEXADO EM:

Scopus

WOS

Links Úteis