Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

Autor: Tønne, Elin, Due-Tønnessen, Bernt Johan, Mero, Inger-Lise, Wiig, Ulrikke Straume, Kulseth, Mari Ann, Vigeland, Magnus Dehli, Sheng, Ying, Lippe, Charlotte von der, Tveten, Kristian, Meling, Torstein Ragnar, Helseth, Eirik, Heimdal, Ketil Riddervold

Publikováno v: Tønne, Elin Due-Tønnessen, Bernt Johan Mero, Inger-Lise Wiig, Ulrikke Straume Kulseth, Mari Ann Vigeland, Magnus Dehli Sheng, Ying Lippe, Charlotte von der Tveten, Kristian Meling, Torstein Ragnar Helseth, Eirik Heimdal, Ketil Riddervold . Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis. European Jo
European Jo

Externí odkaz: http://hdl.handle.net/10852/83534
https://www.duo.uio.no/bitstream/handle/10852/83534/2/Postnr%2B1861608_T%25C3%25B8nne%2Bet%2Bal_Eur%2BJ%2BHum%2BGenet_s41431-020-00788-4.pdf

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

Autor: Tønne, Elin, Due-Tønnessen, Bernt Johan, Mero, Inger-Lise, Wiig, Ulrikke Straume, Kulseth, Mari Ann, Vigeland, Magnus Dehli, Sheng, Ying, von der Lippe, Charlotte, Tveten, Kristian, Meling, Torstein Ragnar, Helseth, Eirik, Heimdal, Ketil Riddervold

Publikováno v: European Journal of Human Genetics: EJHG; June 2021, Vol. 29 Issue: 6 p920-929, 10p