2023 in the European Journal of Human Genetics
Author:
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41431-024-01540-y.pdf
Reference42 articles.
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2. Rafehi H, Green C, Bozaoglu K, Gillies G, Delatycki MB, Lockhart PJ, et al. Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing. Eur J Hum Genet. 2023;31:122–4. https://doi.org/10.1038/s41431-022-01166-y.
3. Young AL, Imran A, Spoelma MJ, Williams R, Tucker KM, Halliday J, et al. Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review. Eur J Hum Genet. 2023;31:18–34. https://doi.org/10.1038/s41431-022-01200-z.
4. Mavraki E, Labrum R, Sergeant K, Alston CL, Woodward C, Smith C, et al. Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. Eur J Hum Genet. 2023;31:148–63. https://doi.org/10.1038/s41431-022-01249-w.
5. Rodari G, Villa R, Porro M, Gangi S, Iascone M, Elli F, et al. Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment. Eur J Hum Genet. 2023;31:195–201. https://doi.org/10.1038/s41431-022-01220-9.
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