sábado, 23 de noviembre 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

POSITION STATEMENT

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel…
Orphanet Journal of Rare Diseases 2019, 14:264 | Published on: 21 November 2019
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REVIEW

Biliary tract large cell neuroendocrine carcinoma: current evidence

Riva Raiker, Aman Chauhan, Hassan Hasanein, Grant Burkeen, Millicent Horn, Janeesh Veedu, Cory Vela, Susanne Arnold, Jill Kolesar, Lowell Anthony, B. Mark Evers and Michael Cavnar
Orphanet Journal of Rare Diseases 2019, 14:266 | Published on: 21 November 2019
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CORRECTION

Correction to: Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton…
Orphanet Journal of Rare Diseases 2019, 14:267 | Published on: 21 November 2019
Full Text | PDF

RESEARCH

Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

Niu Li, Yufei Xu, Yi Zhang, Guoqiang Li, Tingting Yu, Ruen Yao, YunFang Zhou, Yiping Shen, Lei Yin, Xiumin Wang and Jian Wang
Orphanet Journal of Rare Diseases 2019, 14:265 | Published on: 21 November 2019
Full Text | PDF

RESEARCH

Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit

Carla Pérez-Rius, Mónica Folgueira, Xabier Elorza-Vidal, A. Alia, Maja B. Hoegg-Beiler, Muhamed N. H. Eeza, María Luz Díaz, Virginia Nunes, Alejandro Barrallo-Gimeno and Raúl Estévez
Orphanet Journal of Rare Diseases 2019, 14:268 | Published on: 21 November 2019
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RESEARCH

Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey

Ilaria Baldelli, Fabio Gallo, Marco Crimi, Piero Fregatti, Lorenzo Mellini, Pierluigi Santi and Rosagemma Ciliberti
Orphanet Journal of Rare Diseases 2019, 14:269 | Published on: 21 November 2019
Full Text | PDF

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