Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Nicole Buhl"'
Autor:
Amelie Stalke, Annika Behrendt, Finja Hennig, Holger Gohlke, Nicole Buhl, Thea Reinkens, Ulrich Baumann, Brigitte Schlegelberger, Thomas Illig, Eva‐Doreen Pfister, Britta Skawran
Publikováno v:
Clinical Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2a6e5470aa5cf335aa8ddaf5300af8c
https://doi.org/10.1111/cge.14352
https://doi.org/10.1111/cge.14352
Autor:
Eva‐Doreen Pfister, Carola Dröge, Roman Liebe, Amelie Stalke, Nicole Buhl, Antje Ballauff, Tobias Cantz, Eva Bueltmann, Jan Stindt, Tom Luedde, Ulrich Baumann, Verena Keitel
Publikováno v:
Liver International. 42:1084-1096
Progressive familial intrahepatic cholestasis (PFIC) is a collective term for a heterogenous group of rare, inherited cholestasis syndromes. The number of genes underlying the clinical PFIC phenotype is still increasing. While progressive liver disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9926ca8eb1b8ff074a2730e32d652dc
https://doi.org/10.1111/liv.15200
https://doi.org/10.1111/liv.15200
Autor:
Nicole Buhl, Eva‐Doreen Pfister, Jens Bohne, Ulrich Baumann, Björn Hartleben, Brigitte Schlegelberger, Thomas Illig, Britta Skawran, Amelie Stalke
Publikováno v:
Genetics in Medicine
Purpose Detection of all major classes of genomic variants in a single test would decrease cost and increase the efficiency of genomic diagnostics. Genome sequencing (GS) has the potential to provide this level of comprehensive detection. We sought t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14d892ed7778c76419ab4ff1eda9332c
https://doi.org/10.1111/cge.14179
https://doi.org/10.1111/cge.14179
Autor:
Eva‐Doreen Pfister, Carola Dröge, Roman Liebe, Amelie Stalke, Nicole Buhl, Antje Ballauff, Tobias Cantz, Eva Bueltmann, Jan Stindt, Tom Luedde, Ulrich Baumann, Verena Keitel
Publikováno v:
Liver International. 42
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::30979ac7701501ea5f42fc5b4e01b5cd
https://doi.org/10.1111/liv.15272
https://doi.org/10.1111/liv.15272