Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

OBJECTIVE: The growing availability of next-generation sequencing technologies has revolutionized medical genetics, facilitating discovery of causative genes in numerous Mendelian disorders. Nevertheless, there are still many undiagnosed cases. We report the experience of the Genetics Institute at R...

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Detalhes bibliográficos
Publicado no:Rambam Maimonides Med J
Main Authors: Weiss, Karin, Kurolap, Alina, Paperna, Tamar, Mory, Adi, Steinberg, Maya, Hershkovitz, Tova, Ekhilevitch, Nina, Baris, Hagit N.
Formato: Artigo
Idioma:Inglês
Publicado em: Rambam Health Care Campus 2018
Assuntos:
Special Issue Celebrating the 80th Anniversary of Rambam Health Care Campus
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6115477/
https://ncbi.nlm.nih.gov/pubmed/30089087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5041/RMMJ.10341
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