Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases LETTER TO THE EDITOR Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease Wladimir Mauhin, Olivier Lidove and Olivier Benveniste Orphanet Journal of Rare Diseases 2019, 14:4 | Published on: 7 January 2019 Full Text | PDF RESEARCH Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease Gunadi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Wiwid Santiko, Fuad Dheni Musthofa, Kristy Iskandar and Akhmad Makhmudi Orphanet Journal of Rare Diseases 2019, 14:5 | Published on: 7 January 2019 Full Text | PDF LETTER TO THE EDITOR Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, I-Fan Chang, Hui-Chen Ho, Shi-Ping Chou, Tzu-Ming Huang and Ni-Chung Lee Orphanet Journal of Rare Diseases 2019, 14:6 | Published on: 7 January 2019 Full Text | PDF RESEARCH Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG Christopher P. Walker, Andre L. S. Pessoa, Thalita Figueiredo, Megan Rafferty, Uirá S. Melo, Paulo R. Nóbrega, Nicholas Murphy, Fernando Kok, Mayana Zatz, Silvana Santos and Raymond Y. Cho Orphanet Journal of Rare Diseases 2019, 14:3 | Published on: 7 January 2019 Full Text | PDF

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