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Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10649-4
By:
- Deelen, Patrick;
- van Dam, Sipko;
- Herkert, Johanna C.;
- Karjalainen, Juha M.;
- Brugge, Harm;
- Abbott, Kristin M.;
- van Diemen, Cleo C.;
- van der Zwaag, Paul A.;
- Gerkes, Erica H.;
- Zonneveld-Huijssoon, Evelien;
- Boer-Bergsma, Jelkje J.;
- Folkertsma, Pytrik;
- Gillett, Tessa;
- van der Velde, K. Joeri;
- Kanninga, Roan;
- van den Akker, Peter C.;
- Jan, Sabrina Z.;
- Hoorntje, Edgar T.;
- te Rijdt, Wouter P.;
- Vos, Yvonne J.
Publication type:
Article
Spermatogonial stem cell autotransplantation and germline genomic editing: a future cure for spermatogenic failure and prevention of transmission of genomic diseases.
Published in:
2016
By:
- Mulder, Callista L.;
- Yi Zheng;
- Jan, Sabrina Z.;
- Struijk, Robert B.;
- Repping, Sjoerd;
- Hamer, Geert;
- van Pelt, Ans M. M.;
- Zheng, Yi
Publication type:
journal article
Hyperkeratotic hand eczema: Eczema or not?
Published in:
Contact Dermatitis (01051873), 2020, v. 83, n. 3, p. 196, doi. 10.1111/cod.13572
By:
- Politiek, Klaziena;
- Loman, Laura;
- Pas, Hendri H.;
- Diercks, Gilles F.H.;
- Lemmink, Henny H.;
- Jan, Sabrina Z.;
- Akker, Peter C.;
- Bolling, Maria C.;
- Schuttelaar, Marie L.A.
Publication type:
Article
Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59092-6
By:
- de Boer, Eddy N.;
- Vroom, Vincent;
- Scheper, Arjen J.;
- Johansson, Lennart F.;
- Bosscher, Laura;
- Rietema, Nettie;
- Commandeur-Jan, Sabrina Z.;
- Knoers, Nine V. A. M.;
- Sikkema-Raddatz, Birgit;
- van den Berg, Eva;
- van Diemen, Cleo C.
Publication type:
Article

Found: 4

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis.

Spermatogonial stem cell autotransplantation and germline genomic editing: a future cure for spermatogenic failure and prevention of transmission of genomic diseases.

Hyperkeratotic hand eczema: Eczema or not?

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics.