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28 Oct 2015 Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches (Please note the EJHG instructions for authors mts-ejhg.nature.com/cgi-bin/main.plex?form_type=display_auth_instructions regarding sequence variants and
A full template and example to help you write a citation for a Journal in the Human Mutation style. Guide: How to cite a Journal in Human Mutation style Template: Author Surname Author Initial. Year Published. Title. Publication Title Volume number: Pages Used.
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome. Sergio Daga, Margherita Baldassarri, Caterina Lo Rizzo, Chiara Fallerini, Valentina Imperatore, Ilaria Longo, Elisa Frullanti, Elisa Landucci, Laura Massella, Carmine Pecoraro, Guido Garosi, Francesca Ariani, Maria
Retinoic acid-inducible gene I (RIG-I) and melanoma differentiation-associated gene 5 (MDA5) are essential for detecting viral RNA and triggering antiviral responses, including production of type I interferon. We analyzed the phenotype of non-synonymous mutants of human RIG-I and MDA5 reported in databases by
Submissions must be accompanied by a cover letter requesting evaluation for publication in Thyroid. The authors must confirm that the manuscript has been submitted solely to Thyroid and is not submitted, in press, or published elsewhere. They must also confirm that all the research meets the ethics guidelines, including
Reports describing novel mutations in known genes with no new mechanistic data will not be sent for review. Case reports or case series, unless they provide new biologic insights, are rarely appropriate for the Journal. Initial submissions of Original Articles must adhere, in principal, to JID manuscript guidelines but they
28 Oct 2015 New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing issue of the European Journal of Human Genetics presents, on behalf of EuroGentest and the European Society of Human Genetics (ESHG), guidelines for The authors declare no conflict of interest.
All material to be considered for publication in Human Molecular Genetics should be submitted in electronic form via the journal's online submission system at mc.manuscriptcentral.com/hmg . Once you have prepared your manuscript according to the instructions below, instructions on how to submit your manuscript
All Authors must complete the Authorship Agreement Form, the Disclosure Agreement Form, and the Publication Agreement forms if the submitted manuscript reaches provisional acceptance. .. Authors should also follow the mutation nomenclature rules of the Human Genome Variation Society (wwwhgvs.org). In addition
95% of authors who answered a survey reported that they would definitely publish or probably publish in the journal again. Human Genetics presents original and timely articles on all aspects of human genetics. Coverage includes gene structure and organization; gene expression; mutation detection and analysis; linkage
     

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