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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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| Опубликовано в: : | Rambam Maimonides Med J |
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| Главные авторы: | , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Rambam Health Care Campus
2018
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| Предметы: | |
| Online-ссылка: | 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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