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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2019 | 1 |
2020 | 2 |
2024 | 0 |
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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.
Nature. 2020.
PMID: 32581362
Free PMC article.
Severe neurodevelopmental disease caused by a homozygous TLK2 variant.
Töpf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Güngör S, Lochmüller H, Hiz S, Horvath R.
Töpf A, et al.
Eur J Hum Genet. 2020 Mar;28(3):383-387. doi: 10.1038/s41431-019-0519-x.
Eur J Hum Genet. 2020.
PMID: 31558842
Free PMC article.
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Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.
Yiş U, Hiz S, Güneş S, Diniz G, Baydan F, Töpf A, Sonmezler E, Lochmüller H, Horvath R, Oktay Y.
Yiş U, et al.
J Neuromuscul Dis. 2019;6(3):377-384. doi: 10.3233/JND-190383.
J Neuromuscul Dis. 2019.
PMID: 31227654
Free PMC article.
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