jueves, 25 de julio de 2019

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

New Articles For BioMed Central:

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

RESEARCH

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

Sara Guerrero-Aspizua, Claudio J. Conti, Maria Jose Escamez, Daniele Castiglia, Giovanna Zambruno, Leila Youssefian, Hassan Vahidnezhad, Luis Requena, Peter Itin, Gianluca Tadini, Ivelina Yordanova, Ludovic Martin, Jouni Uitto, Cristina Has and Marcela Del Rio
Orphanet Journal of Rare Diseases 2019, 14:183 | Published on: 24 July 2019

RESEARCH

Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement

Siyu Ma, Changming Chen, Qian Liang, Xi Wu, Xuefeng Wang, Wenman Wu, Yan Liu and Qiulan Ding
Orphanet Journal of Rare Diseases 2019, 14:182 | Published on: 24 July 2019

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