검색결과 : 4건
| No. | Article |
|---|---|
| 1 |
Evidence for 28 genetic disorders discovered by combining healthcare and research data Kaplanis J, Samocha KE, Wiel L, Zhang ZC, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K Nature, 586(7831), 757, 2020 |
| 2 |
Evidence for 28 genetic disorders discovered by combining healthcare and research data Kaplanis J, Samocha KE, Wiel L, Zhang ZC, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K Nature, 586(7831), 757, 2020 |
| 3 |
Evidence for 28 genetic disorders discovered by combining healthcare and research data Kaplanis J, Samocha KE, Wiel L, Zhang ZC, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K Nature, 586(7831), 757, 2020 |
| 4 |
Genome sequencing identifies major causes of severe intellectual disability Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BWM, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BBA, Kleefstra T, Brunner HG, Vissers LELM, Veltman JA Nature, 511(7509), 344, 2014 |