Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort Article Swipe
Linda A.J. Hendricks
,
Nicoline Hoogerbrugge
,
Hanka Venselaar
,
Stefan Aretz
,
Isabel Spier
,
Eric Legius
,
Hilde Brems
,
Robin De Putter
,
Kathleen Claes
,
D. Gareth Evans
,
Emma R. Woodward
,
Maurizio Genuardi
,
Fulvia Brugnoletti
,
Yvette van Ierland
,
Kim Dijke
,
Emma Tham
,
Bianca Tesi
,
Janneke Schuurs-Hoeijmakers
,
Maud Branchaud
,
Héctor Salvador
,
Arne Jahn
,
Simon Schnaiter
,
Violetta Anastasiadou
,
Joan Brunet
,
Carla Oliveíra
,
Laura Roht
,
Ana Blatnik
,
Arvīds Irmejs
,
Arjen R. Mensenkamp
,
Janet R. Vos
,
Floor A.M. Duijkers
,
Jacques C. Giltay
,
Liselotte P. van Hest
,
Tjitske Kleefstra
,
Edward M. Leter
,
Maartje Nielsen
,
S.W.R. Nijmeijer
,
Maran J.W. Olderode-Berends
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1016/j.ejmg.2022.104632
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1016/j.ejmg.2022.104632
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
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- OA Status
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- Cited By
- 24
- References
- 31
- Related Works
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- OpenAlex ID
- https://openalex.org/W4306752150
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4306752150Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1016/j.ejmg.2022.104632Digital Object Identifier
- Title
-
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohortWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-10-18Full publication date if available
- Authors
-
Linda A.J. Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, Stefan Aretz, Isabel Spier, Eric Legius, Hilde Brems, Robin De Putter, Kathleen Claes, D. Gareth Evans, Emma R. Woodward, Maurizio Genuardi, Fulvia Brugnoletti, Yvette van Ierland, Kim Dijke, Emma Tham, Bianca Tesi, Janneke Schuurs-Hoeijmakers, Maud Branchaud, Héctor Salvador, Arne Jahn, Simon Schnaiter, Violetta Anastasiadou, Joan Brunet, Carla Oliveíra, Laura Roht, Ana Blatnik, Arvīds Irmejs, Arjen R. Mensenkamp, Janet R. Vos, Floor A.M. Duijkers, Jacques C. Giltay, Liselotte P. van Hest, Tjitske Kleefstra, Edward M. Leter, Maartje Nielsen, S.W.R. Nijmeijer, Maran J.W. Olderode-BerendsList of authors in order
- Landing page
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https://doi.org/10.1016/j.ejmg.2022.104632Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
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https://doi.org/10.1016/j.ejmg.2022.104632Direct OA link when available
- Concepts
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PTEN, Phenotype, Cohort, Medicine, Genotype, Cowden syndrome, Oncology, Internal medicine, Genetics, Biology, Gene, PI3K/AKT/mTOR pathway, ApoptosisTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
24Total citation count in OpenAlex
- Citations by year (recent)
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2025: 12, 2024: 7, 2023: 4, 2022: 1Per-year citation counts (last 5 years)
- References (count)
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31Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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