Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental …
S Berland, BI Haukanes, PB Juliusson… - Journal of Medical …, 2022 - jmg.bmj.com
Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental …
S Berland, BI Haukanes, PB Juliusson… - Journal of Medical …, 2022 - search.proquest.com
Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental …
S Berland, BI Haukanes… - Journal of medical …, 2022 - pubmed.ncbi.nlm.nih.gov
Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
[PDF][PDF] Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with …
S Berland, BI Haukanes, PB Juliusson… - Journal of Medical …, 2020 - jmg.bmj.com
Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental …
S Berland, BI Haukanes, PB Juliusson, G Houge - 2022 - bora.uib.no
Background: Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
[HTML][HTML] Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with …
S Berland, BI Haukanes, PB Juliusson… - Journal of Medical …, 2022 - ncbi.nlm.nih.gov
Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
[PDF][PDF] Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with …
S Berland, BI Haukanes, PB Juliusson, G Houge - scholar.archive.org
Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with …
S Berland, BI Haukanes, PB Juliusson… - Journal of Medical …, 2020 - europepmc.org
Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …