Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jacques Giltay"'
Autor:
Sjors Middelkamp, Judith M. Vlaar, Jacques Giltay, Jerome Korzelius, Nicolle Besselink, Sander Boymans, Roel Janssen, Lisanne de la Fonteijne, Ellen van Binsbergen, Markus J. van Roosmalen, Ron Hochstenbach, Daniela Giachino, Michael E. Talkowski, Wigard P. Kloosterman, Edwin Cuppen
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown. Methods We applied a combination
Externí odkaz:
https://doaj.org/article/341d24bce7eb47ffb1b6902c15a0ce41
Autor:
Libor Kozak, Jaran Apold, Hans Geir Eiken, Elisabeth Svensson, Uta Lichter-Konecki, Petr Cechak, Flemming Güttler, Jadwiga Jaruzelska, Erich Kunert, Jacques Giltay, D. Melle
Publikováno v:
Human genetics. 92(2)
We have compiled data on the frequencies of the phenylketonuria G272X mutation in European populations. This mutation occurs north of the Alps. It has a particularly high frequency in the Oslo Fjord region of Norway with the adjacent Bohuslan region
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41d631dca3884c96ed0454645fbb6a6f
https://pubmed.ncbi.nlm.nih.gov/8370573
https://pubmed.ncbi.nlm.nih.gov/8370573