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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Detalles Bibliográficos
Autores principales: Weiss, Karin, Kurolap, Alina, Paperna, Tamar, Mory, Adi, Steinberg, Maya, Hershkovitz, Tova, Ekhilevitch, Nina, Baris, Hagit N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rambam Health Care Campus 2018
Materias:
Special Issue Celebrating the 80th Anniversary of Rambam Health Care Campus
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115477/
https://www.ncbi.nlm.nih.gov/pubmed/30089087
http://dx.doi.org/10.5041/RMMJ.10341

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115477/
https://www.ncbi.nlm.nih.gov/pubmed/30089087
http://dx.doi.org/10.5041/RMMJ.10341

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